Identification of two novel PRPF31 mutations in Chinese families with non‐syndromic autosomal dominant retinitis pigmentosa

Abstract Background Retinitis pigmentosa is a heterogeneous group of inherited retinal diseases leading to progressive vision loss. It has been estimated that the etiology is still unclear in 22%‐40% of cases, indicating that many novel pathogenic variations related to RP remain unidentified in many...

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Autores principales:	Li Cao, Chunyan Peng, Jing Yu, Wei Jiang, Jiyun Yang
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	Wiley 2020-12-01
Colección:	Molecular Genetics & Genomic Medicine
Materias:	PRPF31 retinitis pigmentosa variation whole exome sequencing
Acceso en línea:	https://doi.org/10.1002/mgg3.1537
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