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

Vaigundan, D and Kalmankar, Neha V and Krishnappa, J and Gowda, Yellappa N and Kutty, AVM and Krishnaswamy, Patnam R (2014) A Novel Mutation in the Transglutaminase-1 Gene in an Autosomal Recessive Congenital Ichthyosis Patient. In: BIOMED RESEARCH INTERNATIONAL .

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

Abstract

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 enzyme human factor XIIIA accepted as valid in similar structural analysis and are projected as guidelines for future studies at an experimental level on TGM1 thus mutated.

Item Type: Journal Article
Additional Information: Copy right for this article belongs to the HINDAWI PUBLISHING CORPORATION, 410 PARK AVENUE, 15TH FLOOR, #287 PMB, NEW YORK, NY 10022 USA
Department/Centre: Division of Biological Sciences > Molecular Biophysics Unit
Depositing User: Id for Latest eprints
Date Deposited: 25 Sep 2014 06:02
Last Modified: 25 Sep 2014 06:02
URI: http://eprints.iisc.ac.in/id/eprint/49948

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