在一名患有常染色体隐性视网膜色素变性和骨骼异常的韩国患者中鉴定CFAP410致病变体。 - Suppr

Identification of the CFAP410 Pathogenic Variants in a Korean Patient with Autosomal Recessive Retinitis Pigmentosa and Skeletal Anomalies.

作者信息

Shin Dong Hoon, Kim Ah Reum, Woo Hye In, Jang Ja-Hyun, Park Woong-Yang, Kim Byoung Joon, Kim Sang Jin

机构信息

Hangil Eye Hospital Retina Center, Incheon, Korea.

Samsung Genome Institute, Seoul, Korea.

出版信息

Korean J Ophthalmol. 2020 Dec;34(6):500-502. doi: 10.3341/kjo.2020.0087. Epub 2020 Dec 3.

DOI:10.3341/kjo.2020.0087

PMID:33307614

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7738230/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/926f/7738230/b905bc14ea62/kjo-2020-0087f1.jpg

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Identification of the CFAP410 Pathogenic Variants in a Korean Patient with Autosomal Recessive Retinitis Pigmentosa and Skeletal Anomalies.

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