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An extended inhibitory context causes skipping of exon 7 of SMN2 in spinal muscular atrophy

โœ Scribed by Natalia N Singh; Elliot J Androphy; Ravindra N Singh


Book ID
116287947
Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
551 KB
Volume
315
Category
Article
ISSN
0006-291X

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A leaky splicing mutation affecting SMN1
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Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder resulting, in most cases, from homozygous deletions of the SMN1 gene or, in rare cases, from SMN1 intragenic mutations. Here we describe the identification and characterization of c.835ร€3C4T, a novel SMA-causing mutation