A Novel Mutation in the Transglutaminase-1 Gene in an Autosomal Recessive Congenital Ichthyosis Patient. (10th August 2014)

• Record Type: Journal Article
• Authors: Vaigundan, D.; Kalmankar, Neha V.; Krishnappa, J.; Gowda, N. Yellappa; Kutty, A. V. M.; Krishnaswamy, Patnam R.
• Other Names: Mehta Kapil Academic Editor.
• Is Part Of: BioMed research international. Volume 2014(2014)
• Publication Date: 2014-08-10
• Subjects: Medicine -- Periodicals; Biology -- Periodicals; Biotechnology -- Periodicals; Life sciences -- Periodicals; 610.5
• DOI: 10.1155/2014/706827
• Languages: English
• ISSNs: 2314-6133

Abstract

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.