A novel missense mutation in the GTPase activating protein homology region of TSC2 in two large fami...
A novel missense mutation in the GTPase activating protein homology region of TSC2 in two large families with tuberous sclerosis complex
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Full title
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Publisher
England: BMJ Publishing Group Ltd
Journal title
Language
English
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Publication information
Publisher
England: BMJ Publishing Group Ltd
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Scope and Contents
Contents
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder (OMIM 191092) characterised by autism, seizures, mental retardation, benign tumours of the brain, heart, kidney, lung, and skin, and malignant tumours of the kidney. 1 TSC has a wide range of phenotypic variability, with some subjects severely affected and others only mildly affecte...
Alternative Titles
Full title
A novel missense mutation in the GTPase activating protein homology region of TSC2 in two large families with tuberous sclerosis complex
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Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1734876
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1734876
Other Identifiers
ISSN
0022-2593,1468-6244
E-ISSN
1468-6244
DOI
10.1136/jmg.38.5.347
