A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.

被引：152
|
作者：
Le Saux, O
Beck, K
Sachsinger, C
Silvestri, C
Treiber, C
Gring, H
Johnson, E
De Paepe, A
Pasquali-Ronchetti, I
Bercovitch, L
Terry, SF
Boyd, C
机构：
[1] Univ Hawaii, Pacific Biomed Res Ctr, Honolulu, HI 96822 USA
[2] Univ Modena, Dept Biomed Sci, Modena, Italy
[3] SW Fdn Biomed Res, Dept Genet, San Antonio, TX USA
[4] Barrow Neurol Inst, Phoenix, AZ 85013 USA
[5] Univ Ziekenhuis, Univ Hosp, Ctr Med Genet, Ghent, Belgium
[6] Univ Wales Hosp, Inst Med Genet, MRC, Connect Tissue Genet Grp, Cardiff, S Glam, Wales
[7] Brown Univ, Sch Med, Dept Dermatol, Providence, RI 02912 USA
[8] PXE Int Inc, Sharon, MA USA
来源：
AMERICAN JOURNAL OF HUMAN GENETICS | 2001年 / 69卷 / 04期
关键词：
D O I：
10.1086/323704
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
2539
引用
收藏
页码：613 / 613
页数：1
相关论文
共 50 条
  • [1] A spectrum of ABCC6 (MRP6) mutations are responsible for Pseudoxanthoma elasticum
    Le Saux, O
    Urban, Z
    Beck, K
    Sachsinger, C
    Sylvestri, C
    de Paepe, A
    Pasquali-Ronchetti, I
    Pope, F
    Terry, S
    Boyd, C
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2001, 117 (02) : 514 - 514
  • [2] Mutations in ABCC6 cause pseudoxanthoma elasticum
    Bergen, AAB
    Plomp, AS
    Schuurman, EJ
    Terry, S
    Breuning, M
    Dauwerse, H
    Swart, J
    Kool, M
    van Soest, S
    Baas, F
    ten Brink, JB
    de Jong, PTVM
    NATURE GENETICS, 2000, 25 (02) : 228 - 231
  • [3] Novel ABCC6 mutations in pseudoxanthoma elasticum
    Chassaing, N
    Martin, L
    Mazereeuw, J
    Barrié, L
    Nizard, S
    Bonafé, JL
    Calvas, P
    Hovnanian, A
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2004, 122 (03) : 608 - 613
  • [4] Mutations in ABCC6 cause pseudoxanthoma elasticum
    Arthur A.B. Bergen
    Astrid S. Plomp
    Ellen J. Schuurman
    Sharon Terry
    Martijn Breuning
    Hans Dauwerse
    Jaap Swart
    Marcel Kool
    Simone van Soest
    Frank Baas
    Jacoline B. ten Brink
    Paulus T.V.M. de Jong
    Nature Genetics, 2000, 25 : 228 - 231
  • [5] A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum (vol 69, pg 749, 2001)
    Le Saux
    Marais, AS
    Viljoen, DL
    AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (06) : 1413 - 1413
  • [6] A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum (vol 69, pg 749, 2001)
    Le Saux, O
    Beck, K
    Sachsinger, C
    Silvestri, CA
    Treiber, C
    Göring, HHH
    Johnson, EW
    De Paepe, A
    Pope, FM
    Pasquali-Ronchetti, I
    Bercovitch, L
    Marais, AS
    Viljoen, DL
    Terry, SF
    Boyd, CD
    AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 71 (02) : 448 - 448
  • [7] ABCC6 and pseudoxanthoma elasticum
    Bergen, Arthur A. B.
    Plomp, Astrid S.
    Hu, Xiaofeng
    de Jong, Paulus T. V. M.
    Gorgels, Theo G. M. F.
    PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY, 2007, 453 (05): : 685 - 691
  • [8] ABCC6 mutations in the Japanese patients with pseudoxanthoma elasticum
    Iwanaga, A.
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2012, 132 : S97 - S97
  • [9] ABCC6 and pseudoxanthoma elasticum
    Arthur A. B. Bergen
    Astrid S. Plomp
    Xiaofeng Hu
    Paulus T. V. M. de Jong
    Theo G. M. F. Gorgels
    Pflügers Archiv - European Journal of Physiology, 2007, 453 : 685 - 691
  • [10] Molecular analysis of Pseudoxanthoma Elasticum: spectrum of ABCC6 gene mutations in the Netherlands
    Hu, X
    Plomp, A
    ten Brink, JB
    Wijnholds, J
    Schuurman, EJ
    van Soest, S
    Oud, M
    Peek, R
    Jong, PTVM
    Bergen, AAB
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2002, 43 : U569 - U569
12345