A Novel Mutation in the Transglutaminase-1 Gene in an Autosomal Recessive Congenital Ichthyosis Patient

A Novel Mutation in the Transglutaminase-1 Gene in an Autosomal Recessive Congenital Ichthyosis Patient

Structure-function implication on a novel homozygous Trp250/Gly mutation of transglutaminase-1 (TGM1) observed in a patient of autosomal recessive congenital ichthyosis is invoked from a bioinformatics analysis. Structural consequences of this mutation are hypothesized in comparison to homologous en...

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Bibliographic Details
Main Authors: D. Vaigundan, Neha V. Kalmankar, J. Krishnappa, N. Yellappa Gowda, A. V. M. Kutty, Patnam R. Krishnaswamy
Format: Article
Language:English
Published: Hindawi Limited 2014-01-01
Series:BioMed Research International
Online Access:http://dx.doi.org/10.1155/2014/706827

Internet

http://dx.doi.org/10.1155/2014/706827

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