Carrier screening for spinal muscular atrophy (SMA) in 107,611 pregnant women during the period 2005-2009: a prospective population-based cohort study.

<h4>Background</h4>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 o...

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Main Authors: Yi-Ning Su, Chia-Cheng Hung, Shin-Yu Lin, Fang-Yi Chen, Jimmy P S Chern, Chris Tsai, Tai-Sheng Chang, Chih-Chao Yang, Hung Li, Hong-Nerng Ho, Chien-Nan Lee
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2011-02-01
Series:PLoS ONE
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/21364876/?tool=EBI