PRPH2基因中的一种新型剪接突变在中国一个家系中导致常染色体显性遗传性视网膜色素变性。 - Suppr

A novel splicing mutation in the PRPH2 gene causes autosomal dominant retinitis pigmentosa in a Chinese pedigree.

作者信息

Cheng Jingliang, Fu Jiewen, Zhou Qi, Xiang Xiaohong, Wei Chunli, Yang Lisha, Fu Shangyi, Khan Md Asaduzzaman, Lv Hongbin, Fu Junjiang

机构信息

Key Laboratory of Epigenetics and Oncology, The Research Center for Preclinical Medicine, Southwest Medical University, Luzhou, Sichuan, China.

Institute of Medical Technology, Xiangtan Medicine and Health Vocational College, Xiangtan, Hunan, China.

出版信息

J Cell Mol Med. 2019 May;23(5):3776-3780. doi: 10.1111/jcmm.14278. Epub 2019 Mar 20.

DOI:10.1111/jcmm.14278

PMID:30892800

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6484291/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1103/6484291/02ee6f4a2f8e/JCMM-23-3776-g001.jpg

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A novel splicing mutation in the PRPH2 gene causes autosomal dominant retinitis pigmentosa in a Chinese pedigree.

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