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Linkage to D3S47 (C17) in one large autosomal dominant retinitis pigmentosa family and exclusion in another: confirmation of genetic heterogeneity.

Recently Dryja and his co-workers observed a mutation in the 23d codon of the rhodopsin gene in a proportion of autosomal dominant retinitis pigmentosa (ADRP) patients. Linkage analysis with a rhodopsin-linked probe C17 (D3S47) was carried out in two large British ADRP families, one with diffuse-typ...

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Autors principals: Lester, D H, Inglehearn, C F, Bashir, R, Ackford, H, Esakowitz, L, Jay, M, Bird, A C, Wright, A F, Papiha, S S, Bhattacharya, S S
Format: Artigo
Idioma:Inglês
Publicat: 1990
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683865/
https://ncbi.nlm.nih.gov/pubmed/2393026
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