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Campbell et al., 1997 - Google Patents

Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype

Campbell et al., 1997

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Document ID
2305890061928770069
Author
Campbell L
Potter A
Ignatius J
Dubowitz V
Davies K
Publication year
Publication venue
The American Journal of Human Genetics

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Autosomal recessive spinal muscular atrophy (SMA) is classified, on the basis of age at onset and severity, into three types: type I, severe; type II, intermediate; and type III, mild. The critical region in 5q13 contains an inverted repeat harboring several genes, including the …
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