Concepedia

A novel mutation in CRYAB associated with autosomal dominant congenital nuclear cataract in a Chinese family.

Qiang Chen, Junjie Ma, Ming Yan, Maneo Emily Mothobi, Yuanyuan Liu, Fang Zheng

PubMed · 2009 · 45 citations · 25 references

Open access

Abstract

These results supported the idea that the novel R11H mutation was responsible for the autosomal dominant nuclear congenital cataract in this pedigree.

References

25

SWISS‐MODEL and the Swiss‐Pdb Viewer: An environment for comparative protein modeling

Nicolas Guex, Manuel C. Peitsch · Electrophoresis · 1997 · 11.2K citations

Swiss‐pdb Viewer, Engineering, Structural Bioinformatics +18

Global data on visual impairment in the year 2002.

Serge Resnikoff, Donatella Pascolini, Daniel Etya’ale et al. · PubMed · 2004 · 4.2K citations · Full text

Diabetic Retinopathy, Ocular Disease, Ophthalmology +10

Alpha-crystallin can function as a molecular chaperone.

Joseph Horwitz · Proceedings of the National Academy of Sciences · 1992 · 1.8K citations · Full text

Protein Chemistry, Protein Function, Alpha B +15

A missense mutation in the αB-crystallin chaperone gene causes a desmin-related myopathy

Patrick Vicart, Anne Caron, Pascale Guicheney et al. · Nature Genetics · 1998 · 1.1K citations

Genetic Disorder, Genetics, Missense Mutation +6

ESyPred3D: Prediction of proteins 3D structures

Christophe Lambert, Nadia G. Léonard, Xavier De Bolle et al. · Bioinformatics · 2002 · 611 citations · Full text