共 48 条
[1]
Gapped BLAST and PSI-BLAST: a new generation of protein database search programs
[J].
Altschul, SF
;
Madden, TL
;
Schaffer, AA
;
Zhang, JH
;
Zhang, Z
;
Miller, W
;
Lipman, DJ
.
NUCLEIC ACIDS RESEARCH,
1997, 25 (17)
:3389-3402

Altschul, SF
论文数: 0 引用数: 0
h-index: 0
机构: NHGRI, LAB GENET DIS RES, NIH, BETHESDA, MD 20892 USA

Madden, TL
论文数: 0 引用数: 0
h-index: 0
机构: NHGRI, LAB GENET DIS RES, NIH, BETHESDA, MD 20892 USA

Schaffer, AA
论文数: 0 引用数: 0
h-index: 0
机构: NHGRI, LAB GENET DIS RES, NIH, BETHESDA, MD 20892 USA

Zhang, JH
论文数: 0 引用数: 0
h-index: 0
机构: NHGRI, LAB GENET DIS RES, NIH, BETHESDA, MD 20892 USA

Zhang, Z
论文数: 0 引用数: 0
h-index: 0
机构: NHGRI, LAB GENET DIS RES, NIH, BETHESDA, MD 20892 USA

Miller, W
论文数: 0 引用数: 0
h-index: 0
机构: NHGRI, LAB GENET DIS RES, NIH, BETHESDA, MD 20892 USA

Lipman, DJ
论文数: 0 引用数: 0
h-index: 0
机构: NHGRI, LAB GENET DIS RES, NIH, BETHESDA, MD 20892 USA
[2]
BIRNBOIM HC, 1979, NUCLEIC ACIDS RES, V7, P1513
[3]
Newly characterized Golgi- localized family of proteins is involved in calcium and pH homeostasis in yeast and human cells
[J].
Demaegd, Didier
;
Foulquier, Francois
;
Colinet, Anne-Sophie
;
Gremillon, Louis
;
Legrand, Dominique
;
Mariot, Pascal
;
Peiter, Edgar
;
Van Schaftingen, Emile
;
Matthijs, Gert
;
Morsomme, Pierre
.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA,
2013, 110 (17)
:6859-6864

Demaegd, Didier
论文数: 0 引用数: 0
h-index: 0
机构:
Catholic Univ Louvain, Inst Sci Vie, B-1348 Louvain, Belgium Catholic Univ Louvain, Inst Sci Vie, B-1348 Louvain, Belgium

Foulquier, Francois
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Lille 1, CNRS, Struct & Funct Glycobiol Unit, UMR 8576, F-59655 Villeneuve Dascq, France Catholic Univ Louvain, Inst Sci Vie, B-1348 Louvain, Belgium

Colinet, Anne-Sophie
论文数: 0 引用数: 0
h-index: 0
机构:
Catholic Univ Louvain, Inst Sci Vie, B-1348 Louvain, Belgium Catholic Univ Louvain, Inst Sci Vie, B-1348 Louvain, Belgium

Gremillon, Louis
论文数: 0 引用数: 0
h-index: 0
机构:
Catholic Univ Louvain, Inst Sci Vie, B-1348 Louvain, Belgium Catholic Univ Louvain, Inst Sci Vie, B-1348 Louvain, Belgium

Legrand, Dominique
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Lille 1, CNRS, Struct & Funct Glycobiol Unit, UMR 8576, F-59655 Villeneuve Dascq, France Catholic Univ Louvain, Inst Sci Vie, B-1348 Louvain, Belgium

Mariot, Pascal
论文数: 0 引用数: 0
h-index: 0
机构:
INSERM, Equipe Labellisee Ligue Contre Canc, Lab Physiol Cellulaire, U1003, F-59650 Villeneuve Dascq, France Catholic Univ Louvain, Inst Sci Vie, B-1348 Louvain, Belgium

Peiter, Edgar
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Halle Wittenberg, Fac Nat Sci 3, Inst Agr & Nutr Sci, Plant Nutr Lab, D-06099 Halle, Saale, Germany Catholic Univ Louvain, Inst Sci Vie, B-1348 Louvain, Belgium

Van Schaftingen, Emile
论文数: 0 引用数: 0
h-index: 0
机构:
Catholic Univ Louvain, Lab Physiol Chem, de Duve Inst, B-1200 Brussels, Belgium Catholic Univ Louvain, Inst Sci Vie, B-1348 Louvain, Belgium

Matthijs, Gert
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Louvain, Ctr Human Genet, Lab Mol Diagnost, B-3000 Louvain, Belgium Catholic Univ Louvain, Inst Sci Vie, B-1348 Louvain, Belgium

Morsomme, Pierre
论文数: 0 引用数: 0
h-index: 0
机构:
Catholic Univ Louvain, Inst Sci Vie, B-1348 Louvain, Belgium Catholic Univ Louvain, Inst Sci Vie, B-1348 Louvain, Belgium
[4]
Further characterization of ATP6V0A2-related autosomal recessive cutis laxa
[J].
Fischer, Bjoern
;
Dimopoulou, Aikaterini
;
Egerer, Johannes
;
Gardeitchik, Thatjana
;
Kidd, Alexa
;
Jost, Dominik
;
Kayserili, Hulya
;
Alanay, Yasemin
;
Tantcheva-Poor, Iliana
;
Mangold, Elisabeth
;
Daumer-Haas, Cornelia
;
Phadke, Shubha
;
Peirano, Reto I.
;
Heusel, Julia
;
Desphande, Charu
;
Gupta, Neerja
;
Nanda, Arti
;
Felix, Emma
;
Berry-Kravis, Elisabeth
;
Kabra, Madhulika
;
Wevers, Ron A.
;
van Maldergem, Lionel
;
Mundlos, Stefan
;
Morava, Eva
;
Kornak, Uwe
.
HUMAN GENETICS,
2012, 131 (11)
:1761-1773

Fischer, Bjoern
论文数: 0 引用数: 0
h-index: 0
机构:
Charite, Inst Med Genet & Humangenet, D-13353 Berlin, Germany Charite, Inst Med Genet & Humangenet, D-13353 Berlin, Germany

Dimopoulou, Aikaterini
论文数: 0 引用数: 0
h-index: 0
机构:
Charite, Inst Med Genet & Humangenet, D-13353 Berlin, Germany Charite, Inst Med Genet & Humangenet, D-13353 Berlin, Germany

Egerer, Johannes
论文数: 0 引用数: 0
h-index: 0
机构:
Charite, Inst Med Genet & Humangenet, D-13353 Berlin, Germany
Max Planck Inst Mol Genet, FG Dev & Dis, D-14195 Berlin, Germany Charite, Inst Med Genet & Humangenet, D-13353 Berlin, Germany

Gardeitchik, Thatjana
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Pediat, NL-6525 ED Nijmegen, Netherlands Charite, Inst Med Genet & Humangenet, D-13353 Berlin, Germany

Kidd, Alexa
论文数: 0 引用数: 0
h-index: 0
机构:
Wellington Hosp, Cent Reg Genet Serv, Wellington, New Zealand
Wellington Hosp, So Reg Genet Serv, Wellington, New Zealand Charite, Inst Med Genet & Humangenet, D-13353 Berlin, Germany

Jost, Dominik
论文数: 0 引用数: 0
h-index: 0
机构:
Charite, Inst Med Genet & Humangenet, D-13353 Berlin, Germany Charite, Inst Med Genet & Humangenet, D-13353 Berlin, Germany

Kayserili, Hulya
论文数: 0 引用数: 0
h-index: 0
机构:
Istanbul Univ, Istanbul Fac Med, Dept Med Genet, Istanbul, Turkey Charite, Inst Med Genet & Humangenet, D-13353 Berlin, Germany

Alanay, Yasemin
论文数: 0 引用数: 0
h-index: 0
机构:
Acibadem Univ, Dept Child Hlth & Dis, Istanbul, Turkey Charite, Inst Med Genet & Humangenet, D-13353 Berlin, Germany

Tantcheva-Poor, Iliana
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cologne, Dept Dermatol, Cologne, Germany Charite, Inst Med Genet & Humangenet, D-13353 Berlin, Germany

Mangold, Elisabeth
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bonn, Inst Human Genet, Bonn, Germany Charite, Inst Med Genet & Humangenet, D-13353 Berlin, Germany

Daumer-Haas, Cornelia
论文数: 0 引用数: 0
h-index: 0
机构:
Prenatal Med Munich, Munich, Germany Charite, Inst Med Genet & Humangenet, D-13353 Berlin, Germany

Phadke, Shubha
论文数: 0 引用数: 0
h-index: 0
机构:
Sanjay Gandhi Postgrad Inst Med Sci, Dept Med Genet, Lucknow, Uttar Pradesh, India Charite, Inst Med Genet & Humangenet, D-13353 Berlin, Germany

Peirano, Reto I.
论文数: 0 引用数: 0
h-index: 0
机构:
Beiersdorf AG, R&D, Skin Res Ctr, D-20253 Hamburg, Germany Charite, Inst Med Genet & Humangenet, D-13353 Berlin, Germany

Heusel, Julia
论文数: 0 引用数: 0
h-index: 0
机构:
Beiersdorf AG, R&D, Skin Res Ctr, D-20253 Hamburg, Germany Charite, Inst Med Genet & Humangenet, D-13353 Berlin, Germany

Desphande, Charu
论文数: 0 引用数: 0
h-index: 0
机构:
Guys Hosp, Dept Clin Genet, London SE1 9RT, England Charite, Inst Med Genet & Humangenet, D-13353 Berlin, Germany

Gupta, Neerja
论文数: 0 引用数: 0
h-index: 0
机构:
All India Inst Med Sci, Dept Pediat, New Delhi, India Charite, Inst Med Genet & Humangenet, D-13353 Berlin, Germany

Nanda, Arti
论文数: 0 引用数: 0
h-index: 0
机构:
Al Sabah Hosp, Asad Al Hamad Dermatol Ctr, Pediat Dermatol Unit, Kuwait, Kuwait Charite, Inst Med Genet & Humangenet, D-13353 Berlin, Germany

Felix, Emma
论文数: 0 引用数: 0
h-index: 0
机构:
Wellington Hosp, Cent Reg Genet Serv, Wellington, New Zealand
Wellington Hosp, So Reg Genet Serv, Wellington, New Zealand Charite, Inst Med Genet & Humangenet, D-13353 Berlin, Germany

Berry-Kravis, Elisabeth
论文数: 0 引用数: 0
h-index: 0
机构:
Rush Univ, Med Ctr, Dept Pediat Neurol Sci & Biochem, Chicago, IL 60612 USA Charite, Inst Med Genet & Humangenet, D-13353 Berlin, Germany

Kabra, Madhulika
论文数: 0 引用数: 0
h-index: 0
机构:
All India Inst Med Sci, Dept Pediat, New Delhi, India Charite, Inst Med Genet & Humangenet, D-13353 Berlin, Germany

Wevers, Ron A.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Lab Genet Endocrine & Metab Dis, NL-6525 ED Nijmegen, Netherlands Charite, Inst Med Genet & Humangenet, D-13353 Berlin, Germany

van Maldergem, Lionel
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Franche Comte, Ctr Hosp Univ, Ctr Genet Humaine, Cutis Laxa,Debre Type Study Grp, F-25030 Besancon, France Charite, Inst Med Genet & Humangenet, D-13353 Berlin, Germany

Mundlos, Stefan
论文数: 0 引用数: 0
h-index: 0
机构:
Charite, Inst Med Genet & Humangenet, D-13353 Berlin, Germany
Max Planck Inst Mol Genet, FG Dev & Dis, D-14195 Berlin, Germany
Charite, Berlin Brandenburg Ctr Regenerat Therapies, D-13353 Berlin, Germany Charite, Inst Med Genet & Humangenet, D-13353 Berlin, Germany

Morava, Eva
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Pediat, NL-6525 ED Nijmegen, Netherlands Charite, Inst Med Genet & Humangenet, D-13353 Berlin, Germany

Kornak, Uwe
论文数: 0 引用数: 0
h-index: 0
机构:
Charite, Inst Med Genet & Humangenet, D-13353 Berlin, Germany
Max Planck Inst Mol Genet, FG Dev & Dis, D-14195 Berlin, Germany Charite, Inst Med Genet & Humangenet, D-13353 Berlin, Germany
[5]
Vacuolar ATPases: rotary proton pumps in physiology and pathophysiology
[J].
Forgac, Michoel
.
NATURE REVIEWS MOLECULAR CELL BIOLOGY,
2007, 8 (11)
:917-929

Forgac, Michoel
论文数: 0 引用数: 0
h-index: 0
机构:
Tufts Univ, Sch Med, Dept Physiol, Boston, MA 02111 USA Tufts Univ, Sch Med, Dept Physiol, Boston, MA 02111 USA
[6]
TMEM165 Deficiency Causes a Congenital Disorder of Glycosylation
[J].
Foulquier, Francois
;
Amyere, Mustapha
;
Jaeken, Jaak
;
Zeevaert, Renate
;
Schollen, Els
;
Race, Valerie
;
Bammens, Riet
;
Morelle, Willy
;
Rosnoblet, Claire
;
Legrand, Dominique
;
Demaegd, Didier
;
Buist, Neil
;
Cheillan, David
;
Guffon, Nathalie
;
Morsomme, Pierre
;
Annaert, Willem
;
Freeze, Hudson H.
;
Van Schaftingen, Emile
;
Vikkula, Miikka
;
Matthijs, Gert
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2012, 91 (01)
:15-26

Foulquier, Francois
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Lille 1, Inst Federatif Rech 147, Struct & Funct Glycobiol Unit, CNRS,UMR 8576, F-59655 Villeneuve Dascq, France Univ Louvain, Ctr Human Genet, Lab Mol Diagnost, B-3000 Louvain, Belgium

Amyere, Mustapha
论文数: 0 引用数: 0
h-index: 0
机构:
Catholic Univ Louvain, de Duve Inst, Lab Human Mol Genet, B-1200 Brussels, Belgium Univ Louvain, Ctr Human Genet, Lab Mol Diagnost, B-3000 Louvain, Belgium

Jaeken, Jaak
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Gasthuisberg, Dept Pediat, Ctr Metab Dis, B-3000 Louvain, Belgium Univ Louvain, Ctr Human Genet, Lab Mol Diagnost, B-3000 Louvain, Belgium

Zeevaert, Renate
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Gasthuisberg, Dept Pediat, Ctr Metab Dis, B-3000 Louvain, Belgium Univ Louvain, Ctr Human Genet, Lab Mol Diagnost, B-3000 Louvain, Belgium

Schollen, Els
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Louvain, Ctr Human Genet, Lab Mol Diagnost, B-3000 Louvain, Belgium Univ Louvain, Ctr Human Genet, Lab Mol Diagnost, B-3000 Louvain, Belgium

Race, Valerie
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Louvain, Ctr Human Genet, Lab Mol Diagnost, B-3000 Louvain, Belgium Univ Louvain, Ctr Human Genet, Lab Mol Diagnost, B-3000 Louvain, Belgium

Bammens, Riet
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Louvain, Ctr Human Genet, Lab Mol Diagnost, B-3000 Louvain, Belgium Univ Louvain, Ctr Human Genet, Lab Mol Diagnost, B-3000 Louvain, Belgium

Morelle, Willy
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Lille 1, Inst Federatif Rech 147, Struct & Funct Glycobiol Unit, CNRS,UMR 8576, F-59655 Villeneuve Dascq, France Univ Louvain, Ctr Human Genet, Lab Mol Diagnost, B-3000 Louvain, Belgium

Rosnoblet, Claire
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Lille 1, Inst Federatif Rech 147, Struct & Funct Glycobiol Unit, CNRS,UMR 8576, F-59655 Villeneuve Dascq, France Univ Louvain, Ctr Human Genet, Lab Mol Diagnost, B-3000 Louvain, Belgium

Legrand, Dominique
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Lille 1, Inst Federatif Rech 147, Struct & Funct Glycobiol Unit, CNRS,UMR 8576, F-59655 Villeneuve Dascq, France Univ Louvain, Ctr Human Genet, Lab Mol Diagnost, B-3000 Louvain, Belgium

Demaegd, Didier
论文数: 0 引用数: 0
h-index: 0
机构:
Catholic Univ Louvain, Inst Sci Vie, Mol Physiol Grp, B-1348 Louvain, Belgium Univ Louvain, Ctr Human Genet, Lab Mol Diagnost, B-3000 Louvain, Belgium

Buist, Neil
论文数: 0 引用数: 0
h-index: 0
机构:
Oregon Heath & Sci Univ, Dept Pediat, Portland, OR 97239 USA
Oregon Heath & Sci Univ, Dept Med Genet, Portland, OR 97239 USA Univ Louvain, Ctr Human Genet, Lab Mol Diagnost, B-3000 Louvain, Belgium

Cheillan, David
论文数: 0 引用数: 0
h-index: 0
机构:
Ctr Reference Malad Hereditaires Metab, F-69677 Bron, France Univ Louvain, Ctr Human Genet, Lab Mol Diagnost, B-3000 Louvain, Belgium

Guffon, Nathalie
论文数: 0 引用数: 0
h-index: 0
机构:
Ctr Reference Malad Hereditaires Metab, F-69677 Bron, France Univ Louvain, Ctr Human Genet, Lab Mol Diagnost, B-3000 Louvain, Belgium

Morsomme, Pierre
论文数: 0 引用数: 0
h-index: 0
机构:
Catholic Univ Louvain, Inst Sci Vie, Mol Physiol Grp, B-1348 Louvain, Belgium Univ Louvain, Ctr Human Genet, Lab Mol Diagnost, B-3000 Louvain, Belgium

Annaert, Willem
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Louvain, Ctr Human Genet, Lab Membrane Trafficking, B-3000 Louvain, Belgium
VIB, Dept Mol & Dev Genet, B-3000 Louvain, Belgium Univ Louvain, Ctr Human Genet, Lab Mol Diagnost, B-3000 Louvain, Belgium

Freeze, Hudson H.
论文数: 0 引用数: 0
h-index: 0
机构:
Sanford Burnham Med Res Inst, La Jolla, CA 92037 USA Univ Louvain, Ctr Human Genet, Lab Mol Diagnost, B-3000 Louvain, Belgium

Van Schaftingen, Emile
论文数: 0 引用数: 0
h-index: 0
机构:
Catholic Univ Louvain, de Duve Inst, Physiol Chem Lab, B-1200 Brussels, Belgium Univ Louvain, Ctr Human Genet, Lab Mol Diagnost, B-3000 Louvain, Belgium

Vikkula, Miikka
论文数: 0 引用数: 0
h-index: 0
机构:
Catholic Univ Louvain, de Duve Inst, Lab Human Mol Genet, B-1200 Brussels, Belgium Univ Louvain, Ctr Human Genet, Lab Mol Diagnost, B-3000 Louvain, Belgium

Matthijs, Gert
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Louvain, Ctr Human Genet, Lab Mol Diagnost, B-3000 Louvain, Belgium Univ Louvain, Ctr Human Genet, Lab Mol Diagnost, B-3000 Louvain, Belgium
[7]
Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis
[J].
Frattini, A
;
Orchard, PJ
;
Sobacchi, C
;
Giliani, S
;
Abinun, M
;
Mattsson, JP
;
Keeling, DJ
;
Andersson, AK
;
Wallbrandt, P
;
Zecca, L
;
Notarangelo, LD
;
Vezzoni, P
;
Villa, A
.
NATURE GENETICS,
2000, 25 (03)
:343-346

Frattini, A
论文数: 0 引用数: 0
h-index: 0
机构: CNR, Ist Tecnol Biomed Avanzate, Segrate, Italy

Orchard, PJ
论文数: 0 引用数: 0
h-index: 0
机构: CNR, Ist Tecnol Biomed Avanzate, Segrate, Italy

Sobacchi, C
论文数: 0 引用数: 0
h-index: 0
机构: CNR, Ist Tecnol Biomed Avanzate, Segrate, Italy

Giliani, S
论文数: 0 引用数: 0
h-index: 0
机构: CNR, Ist Tecnol Biomed Avanzate, Segrate, Italy

Abinun, M
论文数: 0 引用数: 0
h-index: 0
机构: CNR, Ist Tecnol Biomed Avanzate, Segrate, Italy

Mattsson, JP
论文数: 0 引用数: 0
h-index: 0
机构: CNR, Ist Tecnol Biomed Avanzate, Segrate, Italy

Keeling, DJ
论文数: 0 引用数: 0
h-index: 0
机构: CNR, Ist Tecnol Biomed Avanzate, Segrate, Italy

Andersson, AK
论文数: 0 引用数: 0
h-index: 0
机构: CNR, Ist Tecnol Biomed Avanzate, Segrate, Italy

Wallbrandt, P
论文数: 0 引用数: 0
h-index: 0
机构: CNR, Ist Tecnol Biomed Avanzate, Segrate, Italy

Zecca, L
论文数: 0 引用数: 0
h-index: 0
机构: CNR, Ist Tecnol Biomed Avanzate, Segrate, Italy

Notarangelo, LD
论文数: 0 引用数: 0
h-index: 0
机构: CNR, Ist Tecnol Biomed Avanzate, Segrate, Italy

Vezzoni, P
论文数: 0 引用数: 0
h-index: 0
机构:
CNR, Ist Tecnol Biomed Avanzate, Segrate, Italy CNR, Ist Tecnol Biomed Avanzate, Segrate, Italy

Villa, A
论文数: 0 引用数: 0
h-index: 0
机构: CNR, Ist Tecnol Biomed Avanzate, Segrate, Italy
[8]
Solving Glycosylation Disorders: Fundamental Approaches Reveal Complicated Pathways
[J].
Freeze, Hudson H.
;
Chong, Jessica X.
;
Bamshad, Michael J.
;
Ng, Bobby G.
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2014, 94 (02)
:161-175

Freeze, Hudson H.
论文数: 0 引用数: 0
h-index: 0
机构:
Sanford Burnham Med Res Inst, Human Genet Program, Sanford Childrens Hlth Res Ctr, La Jolla, CA 92037 USA Sanford Burnham Med Res Inst, Human Genet Program, Sanford Childrens Hlth Res Ctr, La Jolla, CA 92037 USA

Chong, Jessica X.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Dept Pediat, Seattle, WA 98195 USA Sanford Burnham Med Res Inst, Human Genet Program, Sanford Childrens Hlth Res Ctr, La Jolla, CA 92037 USA

Bamshad, Michael J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Dept Pediat, Seattle, WA 98195 USA Sanford Burnham Med Res Inst, Human Genet Program, Sanford Childrens Hlth Res Ctr, La Jolla, CA 92037 USA

Ng, Bobby G.
论文数: 0 引用数: 0
h-index: 0
机构:
Sanford Burnham Med Res Inst, Human Genet Program, Sanford Childrens Hlth Res Ctr, La Jolla, CA 92037 USA Sanford Burnham Med Res Inst, Human Genet Program, Sanford Childrens Hlth Res Ctr, La Jolla, CA 92037 USA
[9]
Assembly of the yeast vacuolar H+-ATPase occurs in the endoplasmic reticulum and requires a Vma12p/Vma22p assembly complex
[J].
Graham, LA
;
Hill, KJ
;
Stevens, TH
.
JOURNAL OF CELL BIOLOGY,
1998, 142 (01)
:39-49

Graham, LA
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oregon, Inst Mol Biol, Eugene, OR 97403 USA Univ Oregon, Inst Mol Biol, Eugene, OR 97403 USA

Hill, KJ
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oregon, Inst Mol Biol, Eugene, OR 97403 USA Univ Oregon, Inst Mol Biol, Eugene, OR 97403 USA

Stevens, TH
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oregon, Inst Mol Biol, Eugene, OR 97403 USA Univ Oregon, Inst Mol Biol, Eugene, OR 97403 USA
[10]
B4GALT1-Congenital Disorders of Glycosylation Presents as a Non-Neurologic Glycosylation Disorder with Hepatointestinal Involvement
[J].
Guillard, Mailys
;
Morava, Eva
;
de Ruijter, Jorg
;
Roscioli, Tony
;
Penzien, Johann
;
van den Heuvel, Lambert
;
Willemsen, Michel A.
;
de Brouwer, Arjan
;
Bodamer, Olaf A.
;
Wevers, Ron A.
;
Lefeber, Dirk J.
.
JOURNAL OF PEDIATRICS,
2011, 159 (06)
:1041-U215

Guillard, Mailys
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Dept Lab Med,Dept Neurol, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Dept Lab Med,Dept Neurol, NL-6525 GA Nijmegen, Netherlands

Morava, Eva
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Dept Paediat, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Dept Lab Med,Dept Neurol, NL-6525 GA Nijmegen, Netherlands

de Ruijter, Jorg
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Dept Lab Med,Dept Neurol, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Dept Lab Med,Dept Neurol, NL-6525 GA Nijmegen, Netherlands

Roscioli, Tony
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Dept Human Genet, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Dept Lab Med,Dept Neurol, NL-6525 GA Nijmegen, Netherlands

Penzien, Johann
论文数: 0 引用数: 0
h-index: 0
机构:
Klinikum Augsburg, Dept Paediat, Augsburg, Germany Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Dept Lab Med,Dept Neurol, NL-6525 GA Nijmegen, Netherlands

van den Heuvel, Lambert
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Dept Lab Med,Dept Neurol, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Dept Lab Med,Dept Neurol, NL-6525 GA Nijmegen, Netherlands

Willemsen, Michel A.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Dept Lab Med,Dept Neurol, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Dept Lab Med,Dept Neurol, NL-6525 GA Nijmegen, Netherlands

de Brouwer, Arjan
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Dept Human Genet, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Dept Lab Med,Dept Neurol, NL-6525 GA Nijmegen, Netherlands

Bodamer, Olaf A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Miami, Miller Sch Med, Dept Human Genet, Miami, FL 33136 USA Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Dept Lab Med,Dept Neurol, NL-6525 GA Nijmegen, Netherlands

Wevers, Ron A.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Dept Lab Med,Dept Neurol, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Dept Lab Med,Dept Neurol, NL-6525 GA Nijmegen, Netherlands

Lefeber, Dirk J.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Dept Lab Med,Dept Neurol, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Dept Lab Med,Dept Neurol, NL-6525 GA Nijmegen, Netherlands