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Novel compound heterozygous mutations in DNAH1 cause primary infertility in Han Chinese males with multiple morphological abnormalities of the sperm flagella.

Asian journal of andrology - 1 Jan 2023

Wang Meng, Yang Qi-Yu, Zhou Jue-Pu, Tan Hui-Ping, Hu Juan, Jin Lei, Zhu Li-Xia

Abstract excerpt

This study aimed to identify genetic causes responsible for multiple morphological abnormalities of the sperm flagella (MMAF) in the Han Chinese population. Three primary infertile males with completely immobile sperm and MMAF were enrolled. Whole-exome sequencing and Sanger sequencing were performed to identify disease-causing genes. Subsequently, morphological and ultrastructural analyses of sperm flagella were...

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Identifiers

PMID: 36510862
DOI: 10.4103/aja202292
PMCID: PMC10411265

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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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