Screening of Deletions in SMN, NAIP and BTF2p44 Genes in Turkish Spinal Muscular Atrophy Patients

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Human Heredity, Vol. 50, Iss. 3, 2000-02 ,pp. : 162-165

Karger

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

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

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

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

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

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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

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