De novo mutations of SCN1A are responsible for arthrogryposis broadening the SCN1A-related phenotype...
De novo mutations of SCN1A are responsible for arthrogryposis broadening the SCN1A-related phenotypes
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Publisher
England: BMJ Publishing Group Ltd
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Language
English
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Publisher
England: BMJ Publishing Group Ltd
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BackgroundArthrogryposis multiplex congenita (AMC) is the direct consequence of reduced fetal movements. AMC includes a large spectrum of diseases which result from variants in genes encoding components required for the formation or the function of the neuromuscular system. AMC may also result from central nervous involvement. SCN1A encodes Nav1.1,...
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Full title
De novo mutations of SCN1A are responsible for arthrogryposis broadening the SCN1A-related phenotypes
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8551978
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8551978
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ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2020-107166
