Clinical utility gene card for: Choroideremia

被引:32
作者
Moosajee, Mariya L. [1 ,2 ]
Ramsden, Simon C. [3 ]
Black, Graeme C. M. [3 ]
Seabra, Miguel C. [4 ,5 ]
Webster, Andrew R. [1 ,2 ]
机构
[1] UCL, Inst Ophthalmol, London EC1V 9EL, England
[2] Moorfields Eye Hosp, NHS Fdn Trust, London, England
[3] Cent Manchester Univ Hosp NHS Fdn Trust, Manchester, Lancs, England
[4] Univ London Imperial Coll Sci Technol & Med, Dept Mol Med, London, England
[5] Univ Nova Lisboa, CEDOC, Fac Ciencia Med, P-1200 Lisbon, Portugal
关键词
RAB ESCORT PROTEIN-1; MUTATIONS; VARIABILITY; CLONING; REP1; CHM;
D O I
10.1038/ejhg.2013.183
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
[No abstract available]
引用
收藏
页码:e1 / e4
页数:4
相关论文
共 50 条
  • [1] Clinical utility gene card for: Trimethylaminuria
    Shephard, Elizabeth A.
    Treacy, Eileen P.
    Phillips, Ian R.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2012, 20 (03) : 365 - 5
  • [2] Clinical utility gene card for: Sitosterolaemia
    Hooper, Amanda J.
    Bell, Damon A.
    Hegele, Robert A.
    Burnett, John R.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2017, 25 (04) : e1 - e3
  • [3] Clinical utility gene card for: Phenylketonuria
    Zschocke, Johannes
    Haverkamp, Thomas
    Moller, Lisbeth Birk
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2012, 20 (02) : 248 - 3
  • [4] Clinical utility gene card for: Cystinuria
    Eggermann, Thomas
    Zerres, Klaus
    Nunes, Virginia
    Font-Llitjos, Mariona
    Bisceglia, Luigi
    Chatzikyriakidou, Anthoula
    dello Strologo, Luca
    Pras, Elon
    Creemers, John
    Palacin, Manuel
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2012, 20 (02) : 247 - 3
  • [5] Clinical utility gene card for: achromatopsia
    Kohl, Susanne
    Hamel, Christian P.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2011, 19 (06) : 732 - 732
  • [6] Clinical utility gene card for McArdle disease
    Taylor, Rhonda L.
    Davis, Mark
    Turner, Emma
    Brull, Astrid
    Pinos, Tomas
    Cabrera, Macarena
    Nowak, Kristen J.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 (05) : 758 - 764
  • [7] Clinical utility gene card for: Oculocutaneous albinism
    Gronskov, Karen
    Brondum-Nielsen, Karen
    Lorenz, Birgit
    Preising, Markus N.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2014, 22 (08) : 1054 - 1054
  • [8] Clinical utility gene card for: malignant hyperthermia
    Rosenberg, Henry
    Rueffert, Henrik
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2011, 19 (06) : 732 - 732
  • [9] Clinical utility gene card for: Werner syndrome
    Hisama, Fuki M.
    Kubisch, Christian
    Martin, George M.
    Oshima, Junko
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2012, 20 (05) : 1 - 3
  • [10] Clinical utility gene card: for pseudoxanthoma elasticum
    Legrand, Anne
    Benistan, Karelle
    Mazzella, Jean Michael
    Adham, Salma
    Frank, Michael
    Jeunemaitre, Xavier
    Albuisson, Juliette
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 (06) : 919 - 924