✦ LIBER ✦

A novelMIPgene mutation associated with autosomal dominant congenital cataracts in a Chinese family

✍ Scribed by Yu, Yibo; Yu, Yinhui; Chen, Peiqing; Li, Jinyu; Zhu, Yanan; Zhai, Yi; Yao, Ke

Book ID: 121571870
Publisher: BioMed Central
Year: 2014
Tongue: English
Weight: 530 KB
Volume: 15
Category: Article
ISSN: 1471-2350
DOI: 10.1186/1471-2350-15-6

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A Novel Mutation in the Connexin 50 Gene

A Novel Mutation in the Connexin 50 Gene ( GJA8 ) Associated with Autosomal Dominant Congenital Nuclear Cataract in a Chinese Family

✍ Gao, Xiaobo; Cheng, Jie; Lu, Cailing; Li, Xiaoqiao; Li, Feifeng; Liu, Chunmei; Z 📂 Article 📅 2010 🏛 Informa plc 🌐 English ⚖ 936 KB

A novel mutation in AlphaA-crystallin (C

A novel mutation in AlphaA-crystallin (CRYAA) caused autosomal dominant congenital cataract in a large Chinese family

✍ Feng Gu; Weixiao Luo; Xin Li; Zhuoqun Wang; Shuang Lu; Meng Zhang; Baojian Zhao; 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 268 KB

Hereditary cataract is a phenotypically and genetically heterogeneous lens disease that is responsible for a significant proportion of the visual impairment and blindness that occurs in children. In a five-generation Chinese family with autosomal dominant inherited congenital cataract, clinical exam

A novel CRYGD mutation (p.Trp43Arg) caus

A novel CRYGD mutation (p.Trp43Arg) causing autosomal dominant congenital cataract in a Chinese family

✍ Binbin Wang; Changhong Yu; Yi-Bo Xi; Hong-Chen Cai; Jing Wang; Sirui Zhou; Shiyi 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 206 KB

To identify the genetic defect associated with autosomal dominant congenital nuclear cataract in a Chinese family, molecular genetic investigation via haplotype analysis and direct sequencing were performed Sequencing of the __CRYGD__ gene revealed a c.127T>C transition, which resulted in a substitu

Autosomal-Dominant Cerulean Cataract in

Autosomal-Dominant Cerulean Cataract in a Chinese Family Associated with Gene Conversion Mutation in Beta-B2-Crystallin

✍ Wang, Li; Lin, Hui; Gu, Jingzhi; Su, Hong; Huang, Shangzhi; Qi, Yanhua 📂 Article 📅 2009 🏛 S. Karger AG 🌐 English ⚖ 288 KB

Autosomal dominant congenital cataract a

Autosomal dominant congenital cataract and microphthalmia associated with a familial t(2;16) translocation

✍ Yuji Yokoyama; Kouji Narahara; Kazushiro Tsuji; Shinsuke Ninomiya; Yoshiki Seino 📂 Article 📅 1992 🏛 Springer 🌐 English ⚖ 315 KB

We describe a family in which autosomal dominant congenital cataract and microphthalmia were segregating together with a reciprocal translocation t(2;16) (p22.3;p13.3) through three generations. This family included four individuals with balanced translocations, three with partial trisomy 2p derived

A novel GJA8 mutation in an Iranian fami

A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract

✍ C.E. Willoughby; S. Arab; R. Gandhi; S. Zeinali; S. Arab; D. Luk; G. Billingsley 📂 Article 📅 2004 🏛 Elsevier Science 🌐 English ⚖ 41 KB