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Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract
GJA8 encodes connexin-50, a gap junction protein in the eye lens. Mutations in GJA8 have been reported in families with autosomal dominant cataract. The objective of this report was to identify the disease gene in a family with congenital cataract of autosomal recessive inheritance. Eight candidate...
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| Main Authors: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Publishing Group
2009
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3029104/ https://ncbi.nlm.nih.gov/pubmed/21720542 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr.06.2009.1995 |
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