Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature revi...
Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review
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Publisher
England: BioMed Central Ltd
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Language
English
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Publisher
England: BioMed Central Ltd
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Contents
Spinal muscular atrophy linked to chromosome 5q (SMA) is a recessive, progressive, neuromuscular disorder caused by bi-allelic mutations in the SMN1 gene, resulting in motor neuron degeneration and variable presentation in relation to onset and severity. A prevalence of approximately 1-2 per 100,000 persons and incidence around 1 in 10,000 live bir...
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Full title
Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review
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TN_cdi_doaj_primary_oai_doaj_org_article_408e38e2af034b6784ac8c8b34bfabea
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_408e38e2af034b6784ac8c8b34bfabea
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ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-017-0671-8
