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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| Format: | Article |
| Language: | English |
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Pusat Pengajian Sains Perubatan, Universiti Sains Malaysia
2010
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| Online Access: | http://eprints.usm.my/54113/1/Dr.%20Teguh%20Haryo%20Sasongko-Eprints.pdf |