Studying carrier frequency of spinal muscular atrophy in the State of Qatar and comparison to other...
Studying carrier frequency of spinal muscular atrophy in the State of Qatar and comparison to other ethnic groups: Pilot study
About this item
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Publisher
United States: John Wiley & Sons, Inc
Journal title
Language
English
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Publication information
Publisher
United States: John Wiley & Sons, Inc
Subjects
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Scope and Contents
Contents
Background
Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by mutations and deletions in SMN1 at exon 7. The carrier frequency for SMN1 mutations ranges from 2 to 4% in the general population.
Methods
We examined allelic, genotypic relatedness and copy number (CN) variations and frequencies of SMN1 and SMN2, in 13,42...
Alternative Titles
Full title
Studying carrier frequency of spinal muscular atrophy in the State of Qatar and comparison to other ethnic groups: Pilot study
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TN_cdi_doaj_primary_oai_doaj_org_article_9505e631c37645fbaaec2a13b1427b19
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_9505e631c37645fbaaec2a13b1427b19
Other Identifiers
ISSN
2324-9269
E-ISSN
2324-9269
DOI
10.1002/mgg3.2184
