Development of mutation screening for the molecular diagnosis of tuberous scierosis complex

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Development of mutation screening for the molecular diagnosis of tuberous scierosis complex

Tuberous sclerosis complex (TSC; OMIM#1911 00) is an autosomal dominant disorder caused by mutations in eitherTSC1 (9q34.13) orTSC2 (16p13.3). TSC is characterized by a broad phenotypic spectrum including epilepsy, mental retardation, skin lesions, and tumors in various organs. The broad phenotypi...

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Bibliographic Details
Main Author:	Sasongko, Teguh Haryo
Format:	Article
Language:	English
Published:	Pusat Pengajian Sains Perubatan, Universiti Sains Malaysia 2010
Subjects:	R Medicine
Online Access:	http://eprints.usm.my/54113/ http://eprints.usm.my/54113/1/Dr.%20Teguh%20Haryo%20Sasongko-Eprints.pdf

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