Saliva Sample‐Based Non‐Invasive Carrier Screening for Spinal Muscular Atrophy, Hereditary Hearing Loss, and Thalassemia in 13,926 Women of Reproductive Age From South Zhejiang

ABSTRACT Background Although spinal muscular atrophy (SMA), hereditary hearing loss (HL), and thalassemia are common monogenic genetic diseases, the carrier frequencies and variant spectrums of these diseases show regional differences, even within China. Their carrier frequencies and variant spectru...

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Autori principali:	Chenyang Xu, Yanbao Xiang, Xiaoling Lin, Qifan Ma, Yunzhi Xu, Huanzheng Li, Shaohua Tang, Xueqin Xu
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	Wiley 2025-02-01
Serie:	Molecular Genetics & Genomic Medicine
Soggetti:	carrier screening hereditary hearing loss SMA thalassemia
Accesso online:	https://doi.org/10.1002/mgg3.70064
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