A-44G transition in SMN2 intron 6 protects patients with spinal muscular atrophy-Reference-Cited by-同舟云学术

A-44G transition in SMN2 intron 6 protects patients with spinal muscular atrophy

Published:2017-04-28 Issue:14 Volume:26 Page:2768-2780
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Wu Xingxing¹,Wang Shu-Huei²,Sun Junjie¹,Krainer Adrian R³,Hua Yimin¹⁴,Prior Thomas W²

Affiliation:

1. Jiangsu Key Laboratory of Translational Research and Therapy for Neuro-Psycho-Diseases, The Second Affiliated Hospital of Soochow University, Suzhou, Jiangsu, China

2. Department of Pathology, Ohio State University, Columbus, OH, USA

3. Cold Spring Harbor Laboratory, Cold Spring Harbor, New York, NY, USA

4. Institute of Neuroscience, Soochow University, Suzhou, Jiangsu, China

Funder

National Natural Science Foundation of China

NIH

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/26/14/2768/25046880/ddx166.pdf

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4. Essential role for the SMN complex in the specificity of snRNP assembly;Pellizzoni;Science,2002

5. Commonality amid diversity: Multi-study proteomic identification of conserved disease mechanisms in spinal muscular atrophy;Fuller;Neuromuscul. Disord,2016

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