Comprehensive Mutation Analysis of TSC1 and TSC2—and Phenotypic Correlations in 150 Families with Tuberous Sclerosis-Reference-Cited by-同舟云学术

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Comprehensive Mutation Analysis of TSC1 and TSC2—and Phenotypic Correlations in 150 Families with Tuberous Sclerosis

Published:1999-05 Issue:5 Volume:64 Page:1305-1315
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Jones Alistair C.,Shyamsundar Magitha M.,Thomas Meinir W.,Maynard Julie,Idziaszczyk Shelley,Tomkins Susan,Sampson Julian R.,Cheadle Jeremy P.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference47 articles.

1. Update on nomenclature for human gene mutations;Ad Hoc Committee on Mutation Nomenclature;Hum Mutat,1996

2. Mutations in the TSC1 gene account for a minority of patients with tuberous sclerosis;Ali;J Med Genet,1998

3. Mitogenic and oncogenic properties of the small G protein rap1b;Altschuler;Proc Natl Acad Sci USA,1998

4. Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients;Au;Am J Hum Genet,1998

5. Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis;Beauchamp;Hum Mutat,1998

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