Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens-Reference-Cited by-同舟云学术

Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens

Published:2011-08-03 Issue:1 Volume:20 Page:27-32
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Sugarman Elaine A,Nagan Narasimhan,Zhu Hui,Akmaev Viatcheslav R,Zhou Zhaoqing,Rohlfs Elizabeth M,Flynn Kerry,Hendrickson Brant C,Scholl Thomas,Sirko-Osadsa Deborah Alexa,Allitto Bernice A

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2011134.pdf

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5. Lorson CL, Hahnen E, Androphy EJ, Wirth B : A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc Natl Acad Sci USA 1999; 96: 6307–6311.

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