Carrier Screening for Spinal Muscular Atrophy (SMA) in 107,611 Pregnant Women during the Period 2005–2009: A Prospective Population-Based Cohort Study

BACKGROUND: Spinal muscular atrophy (SMA) is the most common neuromuscular autosomal recessive disorder. The American College of Medical Genetics has recently recommended routine carrier screening for SMA because of the high carrier frequency (1 in 25–50) as well as the severity of that genetic dise...

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Главные авторы: Su, Yi-Ning, Hung, Chia-Cheng, Lin, Shin-Yu, Chen, Fang-Yi, Chern, Jimmy P. S., Tsai, Chris, Chang, Tai-Sheng, Yang, Chih-Chao, Li, Hung, Ho, Hong-Nerng, Lee, Chien-Nan
Формат: Artigo
Язык:Inglês
Опубликовано: Public Library of Science 2011
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Research Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC3045421/
https://ncbi.nlm.nih.gov/pubmed/21364876
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0017067
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