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Article

Whole-exome sequencing identified a novel mutation in CHM of a Chinese family.

Journal of genetics - 1 Jan 2021

Tang Hui, Mao Jun, Xiang Jingjing, Liu Minjuan, Li Haibo, Wang Ting

Abstract excerpt

Choroideraemia (CHM) is a rare X-linked progressive-inherited retinal disease. In this study, we diagnosed and explored the genetic cause in a Chinese pedigree exhibiting nyctalopia and decreased visual acuity in early life. Clinical data and peripheral blood samples were collected from available family members. Sanger sequencing of RPGR and RP2 genes, and subsequently whole-exome sequencing was carried out to...

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PMID: 34282730

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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