Novel compound heterozygous missense variants (c.G955A and c.A1822C) of CACNA2D4 likely causing autosomal recessive retinitis pigmentosa in a Chinese patient

Retinitis pigmentosa (RP) is a rare and heterogeneous group of inherited ocular diseases. However, the relationship between CACNA2D4 mutations and RP is not well understood. In this study, a Chinese autosomal recessive retinitis pigmentosa (arRP) pedigree was enrolled and targeted next-generation se...

Descrición completa

Gardado en:
Detalles Bibliográficos
Publicado en:3 Biotech
Main Authors: Cheng, Jingliang, Zhou, Qi, Fu, Jiewen, Wei, Chunli, Zhang, Lianmei, Khan, Md Shamsuddin Sultan, Lv, Hongbin, Anuchapreeda, Songyot, Fu, Junjiang
Formato: Artigo
Idioma:Inglês
Publicado: Springer International Publishing 2021
Assuntos:
Original Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC8036171/
https://ncbi.nlm.nih.gov/pubmed/33927996
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s13205-021-02761-4
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!

Títulos similares