Mutation in the connexin 50 gene (GJA8) in a Russian family with zonular pulverulent cataract

被引：71
作者：
Polyakov, AV [1 ]
Shagina, IA [1 ]
Khlebnikova, OV [1 ]
Evgrafov, OV [1 ]
机构：
[1] Columbia Univ, Genome Ctr, New York, NY 10032 USA
来源：
CLINICAL GENETICS | 2001年 / 60卷 / 06期
关键词：
D O I：
10.1034/j.1399-0004.2001.600614.x
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：476 / 478
页数：3
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  • [1] Connexin 50 mutation in a family with congenital "zonular nuclear" pulverulent cataract of Pakistani origin
    Berry, V
    Mackay, D
    Khaliq, S
    Francis, PJ
    Hameed, A
    Anwar, K
    Mehdi, SQ
    Newbold, RJ
    Ionides, A
    Shiels, A
    Moore, T
    Bhattacharya, SS
    [J]. HUMAN GENETICS, 1999, 105 (1-2) : 168 - 170
  • [2] The γ-crystallins and human cataracts:: A puzzle made clearer
    Héon, E
    Priston, M
    Schorderet, DF
    Billingsley, GD
    Girard, PO
    Lubsen, N
    Munier, FL
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (05) : 1261 - 1267
  • [3] Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2
    Litt, M
    CarreroValenzuela, R
    LaMorticella, DM
    Schultz, DW
    Mitchell, TN
    Kramer, P
    Maumenee, IH
    [J]. HUMAN MOLECULAR GENETICS, 1997, 6 (05) : 665 - 668
  • [4] A 5-base insertion in the γC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract
    Ren, ZX
    Li, AR
    Shastry, BS
    Padma, T
    Ayyagari, R
    Scott, MH
    Parks, MM
    Kaiser-Kupfer, MI
    Hejtmancik, JF
    [J]. HUMAN GENETICS, 2000, 106 (05) : 531 - 537
  • [5] A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q
    Shiels, A
    Mackay, D
    Ionides, A
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    Moore, A
    Bhattacharya, S
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 62 (03) : 526 - 532
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