Biophysical classification of a CACNA1D de novo mutation as a high-risk mutation for a severe neurod...
Biophysical classification of a CACNA1D de novo mutation as a high-risk mutation for a severe neurodevelopmental disorder
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Publisher
England: BioMed Central Ltd
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Language
English
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England: BioMed Central Ltd
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Contents
There is increasing evidence that de novo
missense mutations inducing increased Cav1.3 L-type Ca
-channel-function confer a high risk for neurodevelopmental disorders (autism spectrum disorder with and without neurological and endocrine symptoms). Electrophysiological studies demonstrating the presence or absence of typical gain-of-function g...
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Biophysical classification of a CACNA1D de novo mutation as a high-risk mutation for a severe neurodevelopmental disorder
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TN_cdi_doaj_primary_oai_doaj_org_article_17049d6d3d1d4de5aa20a52604522e77
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_17049d6d3d1d4de5aa20a52604522e77
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ISSN
2040-2392
E-ISSN
2040-2392
DOI
10.1186/s13229-019-0310-4
