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TSC1 R509X Mutation in a Chinese Family with Tuberous Sclerosis Complex.

Authors: Zhang, Y  Gan, J  Pu, Z  Xu, MM  Wang, LF  Li, YH  Liu, ZG 
Citation: Zhang Y, etal., Neuromolecular Med. 2015 Jun;17(2):202-8. doi: 10.1007/s12017-015-8354-x. Epub 2015 Apr 22.
Pubmed: (View Article at PubMed) PMID:25900779
DOI: Full-text: DOI:10.1007/s12017-015-8354-x

Tuberous sclerosis complex is a rare autosomal dominant disorder caused by mutations in either of TSC1 and TSC2 genes. Tuberous sclerosis complex presents diverse clinical characteristics, and either of TSC1 and TSC2 genes shows a wide range of mutations in their coding regions. However, the correlation between genotype and phenotype is yet unknown. We describe the clinical characteristics of a Chinese family with TSC1 gene mutation and present a literature review of Chinese patients with tuberous sclerosis complex gene mutation reported since 2004. This is the first report of TSC1 R509X mutation in a Chinese family, which might deepen our insight into the clinical and molecular pathogenesis of tuberous sclerosis complex.

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CRRD Object Information
CRRD ID: 11073512
Created: 2016-04-28
Species: All species
Last Modified: 2016-04-28
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.