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Copyright © 2014 D. Vaigundan et al. D. Vaigundan et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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.

Details

Title
A Novel Mutation in the Transglutaminase-1 Gene in an Autosomal Recessive Congenital Ichthyosis Patient
Author
Vaigundan, D; Kalmankar, Neha V; Krishnappa, J; Gowda, N Yellappa; Kutty, A V M; Krishnaswamy, Patnam R
Publication year
2014
Publication date
2014
Publisher
John Wiley & Sons, Inc.
ISSN
23146133
e-ISSN
23146141
Source type
Scholarly Journal
Language of publication
English
ProQuest document ID
1555617068
Copyright
Copyright © 2014 D. Vaigundan et al. D. Vaigundan et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.