Mild SMN missense alleles are only functional in the presence of SMN2 in mammals

Author:

Iyer Chitra C1,Corlett Kaitlyn M1,Massoni-Laporte Aurélie1,Duque Sandra I1,Madabusi Narasimhan1,Tisdale Sarah23,McGovern Vicki L1,Le Thanh T1,Zaworski Phillip G4,Arnold W David5,Pellizzoni Livio23,Burghes Arthur H M15

Affiliation:

1. Department of Biological Chemistry and Pharmacology, The Ohio State University Wexner Medical Center, Columbus, OH, USA

2. Center for Motor Neuron Biology and Disease, Columbia University, New York, NY, USA

3. Department of Pathology and Cell Biology, Columbia University, New York, NY, USA

4. PharmOptima, LLC, Portage, MI, USA

5. Department of Neurology, The Ohio State University Wexner Medical Center, Columbus, OH, USA

Funder

National Institutes of Health

The Marshall Heritage Foundation, Muscular Dystrophy Association

CureSMA

Publisher

Oxford University Press (OUP)

Subject

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

Reference78 articles.

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2. Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens;Sugarman;Eur. J. Hum. Genet.,2012

3. Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy;Pearn;J. Med. Genet.,1978

4. The gene frequency of acute Werdnig-Hoffmann disease (SMA type 1). A total population survey in North-East England;Pearn;J. Oral Surg.,1973

5. Identification and characterization of a spinal muscular atrophy-determining gene;Lefebvre;Cell,1995

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