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

页码：476 / 478

页数：3

共 5 条

[1] Connexin 50 mutation in a family with congenital "zonular nuclear" pulverulent cataract of Pakistani origin [J].

Berry, V ;

Mackay, D ;

Khaliq, S ;

Francis, PJ ;

Hameed, A ;

Anwar, K ;

Mehdi, SQ ;

Newbold, RJ ;

Ionides, A ;

Shiels, A ;

Moore, T ;

Bhattacharya, SS .

HUMAN GENETICS, 1999, 105 (1-2) :168-170

[2] The γ-crystallins and human cataracts:: A puzzle made clearer [J].

Héon, E ;

Priston, M ;

Schorderet, DF ;

Billingsley, GD ;

Girard, PO ;

Lubsen, N ;

Munier, FL .

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 [J].

Litt, M ;

CarreroValenzuela, R ;

LaMorticella, DM ;

Schultz, DW ;

Mitchell, TN ;

Kramer, P ;

Maumenee, IH .

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 [J].

Ren, ZX ;

Li, AR ;

Shastry, BS ;

Padma, T ;

Ayyagari, R ;

Scott, MH ;

Parks, MM ;

Kaiser-Kupfer, MI ;

Hejtmancik, JF .

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 [J].

Shiels, A ;

Mackay, D ;

Ionides, A ;

Berry, V ;

Moore, A ;

Bhattacharya, S .

AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 62 (03) :526-532

← 1 →