Novel Mutations of RPGR in Chinese Retinitis Pigmentosa Patients and the Genotype-Phenotype Correlation

X-linked Retinitis Pigmentosa (XLRP) accounts for 10–20% of all RP cases, and represents the most severe subtype of this disease. Mutations in the Retinitis Pigmentosa GTPase Regulator (RPGR) gene are the most common causes of XLRP, accounting for over 70–75% of all XLRP cases. In this work, we anal...

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Autors principals: Yang, Liping, Yin, Xiaobei, Feng, Lina, You, Debo, Wu, Lemeng, Chen, Ningning, Li, Aijun, Li, Genlin, Ma, Zhizhong
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2014
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Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3893273/
https://ncbi.nlm.nih.gov/pubmed/24454928
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0085752
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