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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Detalles Bibliográficos
Autores principales: Yang, Liping, Yin, Xiaobei, Feng, Lina, You, Debo, Wu, Lemeng, Chen, Ningning, Li, Aijun, Li, Genlin, Ma, Zhizhong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3893273/
https://www.ncbi.nlm.nih.gov/pubmed/24454928
http://dx.doi.org/10.1371/journal.pone.0085752

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