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Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract

BACKGROUND: GJA8 encodes connexin‐50, a gap junction protein in the eye lens. Mutations in GJA8 have been reported in families with autosomal dominant cataract. OBJECTIVE: To identify the disease gene in a family with congenital cataract of autosomal recessive inheritance. METHODS: Eight candidate g...

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Detalhes bibliográficos
Main Authors: Ponnam, Surya Prakash G, Ramesha, Kekunnaya, Tejwani, Sushma, Ramamurthy, Balasubramanya, Kannabiran, Chitra
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2007
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2598012/
https://ncbi.nlm.nih.gov/pubmed/17601931
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2007.050138
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