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Article

[Carrier screening for 223 monogenic diseases in Chinese population: a multi-center study in 33 104 individuals].

Nan fang yi ke da xue xue bao = Journal of Southern Medical University - 20 Jun 2024

Hou W, Fu X, Xie X, Zhang C, Bian J, Mao X, Wen J, Luo C, Jin H, Zhu Q, Qi Q, Qian Y, Yuan J, Zhao Y, Yin A, Li S, Jiang Y, Zhang M, Xiao R, Lu Y

Abstract excerpt

OBJECTIVE: To investigate the epidemiological characteristics and mutation spectrum of monogenic diseases in Chinese population through a large-scale, multicenter carrier screening. METHODS: This study was conducted among a total of 33 104 participants (16 610 females) from 12 clinical centers across China.Carrier status for 223 genes was analyzed using high-throughput sequencing and different PCR methods....

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Identifiers

PMID: 38977330
DOI: 10.12122/j.issn.1673-4254.2024.06.01
PMCID: PMC11237288

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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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