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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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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Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene

By Aznarez I.  

Human Molecular Genetics, Vol. 12, Iss. 16, 2003-08 ,pp. : 2031-2040

Oxford University Press

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

By Monani Umrao R.  

Human Molecular Genetics, Vol. 8, Iss. 7, 1999-07 ,pp. : 1177-1183

Oxford University Press

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hnRNP-G promotes exon 7 inclusion of survival motor neuron (SMN) via direct interaction with Htra2-1

By Hofmann Y.   Wirth B.  

Human Molecular Genetics, Vol. 11, Iss. 17, 2002-06 ,pp. : 2037-2049

Oxford University Press

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