Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration

Bardet–Biedl syndrome (BBS) is a syndromic form of retinal degeneration. Recently, homozygosity mapping with a consanguineous family with isolated retinitis pigmentosa identified a missense mutation in BBS3, a known BBS gene. The mutation in BBS3 encodes a single amino acid change at position 89 fro...

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Detalles Bibliográficos
Autores principales: Pretorius, Pamela R., Aldahmesh, Mohammed A., Alkuraya, Fowzan S., Sheffield, Val C., Slusarski, Diane C.
Formato: Texto
Lenguaje:English
Publicado: Oxford University Press 2011
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3063988/
https://www.ncbi.nlm.nih.gov/pubmed/21282186
http://dx.doi.org/10.1093/hmg/ddr039

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3063988/
https://www.ncbi.nlm.nih.gov/pubmed/21282186
http://dx.doi.org/10.1093/hmg/ddr039

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