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Padma Priya, T. and Dalal, Ashwin (2012) Tuberous Sclerosis: Diagnosis and Prenatal Diagnosis by MLPA. The Indian Journal of Pediatrics, 79 (10). pp. 1366-1369. ISSN 0019-5456

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Abstract

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder, caused due to mutations in the TSC1 and TSC2 genes. Mutations in TSC2 gene are more common than in TSC1 gene and mostly they are in the form of large genomic deletions or duplications. The authors report on a novel deletion in TSC2 gene, prenatal diagnosis and genetic counseling in a family with a 3- year- old affected male child. This is the first report on MLPA based mutation analysis of TSC1 and TSC2 genes from India.

Item Type: Article
Depositing User: Dr P Divakar
Date Deposited: 02 Sep 2015 11:50
Last Modified: 15 Sep 2017 10:02
URI: http://cdfd.sciencecentral.in/id/eprint/452

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