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Mutation in the βA3/A1-Crystallin Encoding Gene Cryba1 Causes a Dominant Cataract in the Mouse

✍ Scribed by Jochen Graw; Martin Jung; Jana Löster; Norman Klopp; Dian Soewarto; Christiane Fella; Helmut Fuchs; André Reis; Eckhard Wolf; Rudi Balling; Martin Hrabé de Angelis


Book ID
115614899
Publisher
Elsevier Science
Year
1999
Tongue
English
Weight
261 KB
Volume
62
Category
Article
ISSN
0888-7543

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✍ Kai Jie Wang; Sha Wang; Ni-Qian Cao; Yong-Bin Yan; Si Quan Zhu 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 647 KB

Congenital cataract-microcornea syndrome (CCMC) is a clinically and genetically heterogeneous condition characterized by lens opacities and microcornea. It appears as a distinct phenotype of heritable congenital cataract. Here we report a large Chinese family with autosomal dominant congenital catar