Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes
Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes
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Publisher
England: BMJ Publishing Group LTD
Journal title
Language
English
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Publisher
England: BMJ Publishing Group LTD
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Scope and Contents
Contents
Background Germline mutations in the phosphatase PTEN are associated with diverse human pathologies, including tumour susceptibility, developmental abnormalities and autism, but any genotype-phenotype relationships are poorly understood. Methods We have studied the functional consequences of seven PTEN mutations identified in patients diagnosed wit...
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Full title
Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes
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Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4316932
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4316932
Other Identifiers
ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2014-102803
