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Carrier Screening and Prenatal Diagnosis for Spinal Muscular Atrophy in Ningde City, Fujian Province

ABSTRACT Objective This study aimed to screen for SMN1 (OMIM#600354) deletion carriers in 6035 pregnant women in the eastern part of Fujian Province, to provide a theoretical basis for genetic counseling and further prenatal diagnosis of the disease, and to explore the carrier frequency and clinical...

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Principais autores: JiaoJiao Lu, Xian Zheng, Jing Yang, WenXu Dong, LuoYuan Cao, Xiaomei Zeng, Qinjuan Wu, Xunyan Chen, XianGuo Fu
Formato: Artigo
Idioma:Inglês
Publicado: Wiley 2025-02-01
Series:Molecular Genetics & Genomic Medicine
Assuntos:
carrier screening
prenatal diagnosis
SMN1 gene
spinal muscular atrophy
Acceso en liña:https://doi.org/10.1002/mgg3.70077
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