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Cited by 3,990

The DOI matches its Crossref record.

Identification and characterization of a spinal muscular atrophy-determining gene

Open access
Lefebvre, Suzie, Bürglen, Lydie, Reboullet, Sophie, Clermont, Olivier, Burlet, Philippe, Viollet, Louis, Benichou, Bernard, Cruaud, Corinne, Millasseau, Philippe, Zeviani, Massimo, Le Paslier, Denis, Frézal, Jean, Cohen, Daniel, Weissenbach, Jean, Munnich, Arnold, Melki, Judith·1995·Cell
DOI 10.1016/0092-8674(95)90460-3
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Abstract

Spinal muscular atrophy (SMA) is a common fatal autosomal recessive disorder characterized by degeneration of lower motor neurons, leading to progressive paralysis with muscular atrophy. The gene for SMA has been mapped to chromosome 5q13, where large-scale deletions have been reported. We describe here the inverted duplication of a 500 kb element in normal chromosomes and narrow the critical region to 140 kb within the telomeric region. This interval contains a 20 kb gene encoding a novel protein of 294 amino acids. An highly homologous gene is present in the centromeric element of 95% of controls. The telomeric gene is either lacking or interrupted in 226 of 229 patients, and patients retaining this gene (3 of 229) carry either a point mutation (Y272C) or short deletions in the consensus splice sites of introns 6 and 7. These data suggest that this gene, termed the survival motor neuron (SMN) gene, is an SMA-determining gene.

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Authors
Lefebvre, S., Bürglen, L., Reboullet, S., Clermont, O., Burlet, P., Viollet, L., Benichou, B., Cruaud, C., Millasseau, P., Zeviani, M., Le Paslier, D., Frézal, J., Cohen, D., Weissenbach, J., Munnich, A., & Melki, J.
Venue
Cell
Publisher
Elsevier BV
Published
1995-01
Volume
80
Issue
1
Pages
155-165
ISSN
0092-8674 (ISSN-L)
DOI
10.1016/0092-8674(95)90460-3
OpenAlex
W1980477780
Cited by
3,990
References
0
FWCI
58.38
Type
journal article
Language
en
Open access
bronze

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