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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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| Autors principals: | , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BMJ Group
2007
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| Matèries: | |
| Accés en línia: | 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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