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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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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Molecular Analysis of the SMN and NAIP Genes in Spanish Spinal Muscular Atrophy (SMA) Families and Correlation between Number of Copies of c BCD541 and SMA Phenotype

By Velasco Eladio   Valero Carmen   Valero Ana   Moreno Felipe   Hernández-Chico Concepción  

Human Molecular Genetics, Vol. 5, Iss. 2, 1996-01 ,pp. : 257-263

Oxford University Press

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The role of the SMN gene in proximal spinal muscular atrophy

By Melki J.  

Human Molecular Genetics, Vol. 7, Iss. 10, 1998-10 ,pp. : 1531-1536

Oxford University Press

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Missense Mutations in Exon 6 of the Survival Motor Neuron Gene in Patients with Spinal Muscular Atrophy (SMA)

By Hahnen Eric   Schönling Jutta   Rudnik-Schöneborn Sabine   Raschke Heidrun   Zerres Klaus   Wirth Brunhilde  

Human Molecular Genetics, Vol. 6, Iss. 5, 1997-01 ,pp. : 821-825

Oxford University Press

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