Exome Sequencing Identifies Compound Heterozygous Mutations in CYP4V2 in a Pedigree with Retinitis Pigmentosa

Retinitis pigmentosa (RP) is a heterogeneous group of progressive retinal degenerations characterized by pigmentation and atrophy in the mid-periphery of the retina. Twenty two subjects from a four-generation Chinese family with RP and thin cornea, congenital cataract and high myopia is reported in...

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Detalles Bibliográficos
Autores principales: Wang, Yun, Guo, Liheng, Cai, Su-Ping, Dai, Meizhi, Yang, Qiaona, Yu, Wenhan, Yan, Naihong, Zhou, Xiaomin, Fu, Jin, Guo, Xinwu, Han, Pengfei, Wang, Jun, Liu, Xuyang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3365069/
https://www.ncbi.nlm.nih.gov/pubmed/22693542
http://dx.doi.org/10.1371/journal.pone.0033673

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3365069/
https://www.ncbi.nlm.nih.gov/pubmed/22693542
http://dx.doi.org/10.1371/journal.pone.0033673

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