A humanized Smn gene containing the SMN2 nucleotide alteration in exon 7 mimics SMN2 splicing and the SMA disease phenotype

By Gladman Jordan T.   Bebee Thomas W.   Edwards Chris   Wang Xueyong   Sahenk Zarife   Rich Mark M.   Chandler Dawn S.  

Human Molecular Genetics, Vol. 19, Iss. 21, 2010-11 ,pp. : 4239-4252

Oxford University Press

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An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN

By Lorson Christian L.   Androphy Elliot J.  

Human Molecular Genetics, Vol. 9, Iss. 2, 2000-01 ,pp. : 259-265

Oxford University Press

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SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR

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Molecular Genetics & Genomic Medicine, Vol. 3, Iss. 4, 2015-07 ,pp. : 248-257

John Wiley & Sons Inc

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A feedback loop regulates splicing of the spinal muscular atrophy-modifying gene, SMN2

By Jodelka Francine M.   Ebert Allison D.   Duelli Dominik M.   Hastings Michelle L.  

Human Molecular Genetics, Vol. 19, Iss. 24, 2010-12 ,pp. : 4906-4917

Oxford University Press

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An 11 Base Pair Duplication in Exon 6 of the SMN Gene Produces a Type I Spinal Muscular Atrophy (SMA) Phenotype: Further Evidence For SMN as the Primary SMA-Determining Gene

By Parsons D. Williams   McAndrew Patricia E.   Monani Umrao R.   Mendell Jerry R.   Burghes Arthur H. M.   Prior Thomas W.  

Human Molecular Genetics, Vol. 5, Iss. 11, 1996-11 ,pp. : 1727-1732

Oxford University Press

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