A deletion mutation in the ?A1/A3 crystallin gene (CRYBA1/A3) is associated with autosomal dominant congenital nuclear cataract in a Chinese family

Short-range order of crystallin proteins accounts for eye lens transparency

M. Delaye, Annette Tardieu · Nature · 1983 · 742 citations

Medicine, Molecular Biology, Ophthalmology +12

Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA

M. Litt · Human Molecular Genetics · 1998 · 447 citations

Medicine, Genetics, Molecular Genetics +15

The molecular structure and stability of the eye lens: X-ray analysis of γ-crystallin II

Tom L. Blundell, Peter F. Lindley, Linda Miller et al. · Nature · 1981 · 435 citations

Health Professions, Molecular Biology, Physics +10

A Missense Mutation in the Human Connexin50 Gene (GJA8) Underlies Autosomal Dominant “Zonular Pulverulent” Cataract, on Chromosome 1q

Alan Shiels, Donna S. Mackay, Alexander Ionides et al. · The American Journal of Human Genetics · 1998 · 383 citations · Full text

Medicine, Genetics, Molecular Genetics +11

Connexin46 Mutations in Autosomal Dominant Congenital Cataract

Donna S. Mackay, Alexander Ionides, Zoha Kibar et al. · The American Journal of Human Genetics · 1999 · 300 citations · Full text

Medicine, Genetics, Molecular Genetics +12