Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts

Congenital cataracts are a major cause of bilateral visual impairment in childhood. We mapped the gene responsible for autosomal congenital cerulean cataracts to chromosome 2q33–35 in a four generation family of Moroccan descent. The maximum lod score (7.19 at recombination fraction θ=0) was obtaine...

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Detalhes bibliográficos
Main Authors: Nandrot, E, Slingsby, C, Basak, A, Cherif-Chefchaoun..., M, Benazzouz, B, Hajaji, Y, Boutayeb, S, Gribouval, O, Arbogast, L, Berraho, A, Abitbol, M, Hilal, L
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2003
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Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1735438/
https://ncbi.nlm.nih.gov/pubmed/12676897
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.40.4.262
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