Low levels of Survival Motor Neuron protein are sufficient for normal muscle function in the SMNΔ7 mouse model of SMA-Reference-Cited by-同舟云学术

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Low levels of Survival Motor Neuron protein are sufficient for normal muscle function in the SMNΔ7 mouse model of SMA

Published:2015-08-13 Issue:21 Volume:24 Page:6160-6173
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:Hum. Mol. Genet.

Author:

Iyer Chitra C.,McGovern Vicki L.,Murray Jason D.,Gombash Sara E.,Zaworski Phillip G.,Foust Kevin D.,Janssen Paul M.L.,Burghes Arthur H.M.

Funder

National Institutes of Health

Marshall Heritage Foundation

Ohio State Neuroscience Center

Ohio State University

Publisher

Oxford University Press (OUP)

Subject

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

Link

http://academic.oup.com/hmg/article-pdf/24/21/6160/1671988/ddv332.pdf

Reference90 articles.

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

2. Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy.

3. The survival motor neuron protein in spinal muscular atrophy

4. Correlation between severity and SMN protein level in spinal muscular atrophy

5. A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2

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