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A Novel Mutation in the Transglutaminase-1 Gene in an Autosomal Recessive Congenital Ichthyosis Patient
Joint Authors
Krishnaswamy, Patnam R.
Kutty, A. V. M.
Kalmankar, Neha V.
Vaigundan, D.
Krishnappa, J.
Gowda, N. Yellappa
Source
Issue
Vol. 2014, Issue 2014 (31 Dec. 2014), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2014-08-10
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Vaigundan, D.& Kalmankar, Neha V.& Krishnappa, J.& Gowda, N. Yellappa& Kutty, A. V. M.& Krishnaswamy, Patnam R.. 2014. A Novel Mutation in the Transglutaminase-1 Gene in an Autosomal Recessive Congenital Ichthyosis Patient. BioMed Research International،Vol. 2014, no. 2014, pp.1-6.
https://search.emarefa.net/detail/BIM-492124
Modern Language Association (MLA)
Vaigundan, D.…[et al.]. A Novel Mutation in the Transglutaminase-1 Gene in an Autosomal Recessive Congenital Ichthyosis Patient. BioMed Research International No. 2014 (2014), pp.1-6.
https://search.emarefa.net/detail/BIM-492124
American Medical Association (AMA)
Vaigundan, D.& Kalmankar, Neha V.& Krishnappa, J.& Gowda, N. Yellappa& Kutty, A. V. M.& Krishnaswamy, Patnam R.. A Novel Mutation in the Transglutaminase-1 Gene in an Autosomal Recessive Congenital Ichthyosis Patient. BioMed Research International. 2014. Vol. 2014, no. 2014, pp.1-6.
https://search.emarefa.net/detail/BIM-492124
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-492124