Exome Analysis Identified a Novel Mutation in the RBP4 Gene in a Consanguineous Pedigree with Retinal Dystrophy and Developmental Abnormalities

Retinitis Pigmentosa (RP) is a common form of retinal degeneration characterized by photoreceptor degeneration and retinal pigment epithelium (RPE) atrophy causing loss of visual field and acuities. Exome sequencing identified a novel homozygous splice site variant (c.111+1G>A) in the gene encodi...

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Main Authors: Cukras, Catherine, Gaasterland, Terry, Lee, Pauline, Gudiseva, Harini V., Chavali, Venkata R. M., Pullakhandam, Raghu, Maranhao, Bruno, Edsall, Lee, Soares, Sandra, Reddy, G. Bhanuprakash, Sieving, Paul A., Ayyagari, Radha
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2012
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3506607/
https://ncbi.nlm.nih.gov/pubmed/23189188
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0050205
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