Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7

The aim of this study was to unravel the molecular pathogenesis of an unusual retinitis pigmentosa (RP) phenotype observed in a Turkish consanguineous family. Homozygosity mapping revealed two candidate genes, SAMD7 and RHO. A homozygous RHO mutation c.448G > A, p.E150K was found in two affected...

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Bibliografiske detaljer
Udgivet i:Sci Rep
Main Authors: Van Schil, Kristof, Karlstetter, Marcus, Aslanidis, Alexander, Dannhausen, Katharina, Azam, Maleeha, Qamar, Raheel, Leroy, Bart P., Depasse, Fanny, Langmann, Thomas, De Baere, Elfride
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2016
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4758057/
https://ncbi.nlm.nih.gov/pubmed/26887858
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep21307
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