Exome analysis identified a novel mutation in the RBP4 gene in a consanguineous pedigree with retinal dystrophy and developmental abnormalities.

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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Bibliographic Details
Main Authors: Catherine Cukras, Terry Gaasterland, Pauline Lee, Harini V Gudiseva, Venkata R M Chavali, Raghu Pullakhandam, Bruno Maranhao, Lee Edsall, Sandra Soares, G Bhanuprakash Reddy, Paul A Sieving, Radha Ayyagari
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2012-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3506607?pdf=render

Internet

http://europepmc.org/articles/PMC3506607?pdf=render

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