NGS-based spinal muscular atrophy carrier screening of 10,585 diverse couples in China: a pan-ethnic study-Reference-Cited by-同舟云学术

NGS-based spinal muscular atrophy carrier screening of 10,585 diverse couples in China: a pan-ethnic study

Published:2020-09-03 Issue:1 Volume:29 Page:194-204
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Zhao Sumin,Wang Wanyang,Wang Yaoshen^ORCID,Han Rui,Fan Chunna,Ni Peixiang,Guo Fengyu,Zeng Fanwei,Yang Qiaona,Yang Yun,Sun Yan,Zhang Xinhua,Chen Yan,Zhu Baosheng^ORCID,Cai Wangwei,Chen Shaoke,Cai Ren,Guo Xiaoling,Zhang Chonglin,Zhou Yuqiu,Huang Shuodan,Liu Yanhui,Chen Biyan,Yan Shanhuo,Chen Yajun,Ding Hongmei,Shang Xuan,Xu Xiangmin,Sun Jun,Peng Zhiyu^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://www.nature.com/articles/s41431-020-00714-8.pdf

Reference35 articles.

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3. Su YN, Hung CC, Lin SY, Chen FY, Chern JPS, Tsai C, et al. Carrier screening for spinal muscular atrophy (SMA) in 107,611 pregnant women during the period 2005-9: a prospective population-based cohort study. PLoS ONE. 2011;6:e17067.

4. Lefebvre S, Bürglen L, Reboullet S, Clermont O, Burlet P, Viollet L, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell. 1995;80:155–65.

5. Coovert DD, Le TT, McAndrew PE, Strasswimmer J, Crawford TO, Mendell JR, et al. The survival motor neuron protein in spinal muscular atrophy. Hum Mol Genet. 1997;6:1205–14.

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