Recessive Congenital Total Cataract with Microcornea and Heterozygote Carrier Signs Caused by a Novel Missense CRYAA Mutation (R54C)

Parametric and nonparametric linkage analysis: a unified multipoint approach.

Leonid Kruglyak, Mark J. Daly, Mary Pat Reeve-Daly et al. · PubMed · 1996 · 2.9K citations · Full text

Life Sciences, Biostatistics, Spatial Analysis +7

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

Targeted disruption of the mouse αA-crystallin gene induces cataract and cytoplasmic inclusion bodies containing the small heat shock protein αB-crystallin

James P. Brady, Donita Garland, Yvonne Duglas-Tabor et al. · Proceedings of the National Academy of Sciences · 1997 · 337 citations

Medicine, Molecular Biology, Molecular Genetics +15

A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family.

Elon Pras, Moshe Frydman, Etgar Levy‐Nissenbaum et al. · PubMed · 2000 · 191 citations

Life Sciences, Genetics, Molecular Genetics +13

Cell death triggered by a novel mutation in the alphaA-crystallin gene underlies autosomal dominant cataract linked to chromosome 21q

Donna S. Mackay, Usha P. Andley, Alan Shiels · European Journal of Human Genetics · 2003 · 176 citations

Medicine, Genetics, Molecular Genetics +15