Evidence for pathogenicity of variant ATM Val1729Leu in a family with ataxia telangiectasia
Evidence for pathogenicity of variant ATM Val1729Leu in a family with ataxia telangiectasia
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Author / Creator
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title
Language
English
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Publication information
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
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More information
Scope and Contents
Contents
Ataxia telangiectasia is a rare autosomal recessive multisystem disorder caused by mutations in the gene of ATM serine/threonine kinase. It is characterized by neurodegeneration, leading to severe ataxia, immunodeficiency, increased cancer susceptibility, and telangiectasia. Here, we discovered a co-segregation of two
ATM
gene variants with a...
Alternative Titles
Full title
Evidence for pathogenicity of variant ATM Val1729Leu in a family with ataxia telangiectasia
Authors, Artists and Contributors
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Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8119284
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8119284
Other Identifiers
ISSN
1364-6745
E-ISSN
1364-6753
DOI
10.1007/s10048-021-00639-4
