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Article

A novel mutation in the transglutaminase-1 gene in an autosomal recessive congenital ichthyosis patient.

BioMed research international - 1 Jan 2014

Vaigundan D, Kalmankar Neha V, Krishnappa J, Gowda N Yellappa, Kutty A V M, Krishnaswamy Patnam R

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Predisposition to Disease

Share to Ichthyosis, Lamellar

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Share to Polymorphism, Single Nucleotide

Share to Transglutaminases

Source

Open in PubMed Open full text

Identifiers

PMID: 25180191
DOI: 10.1155/2014/706827
PMCID: PMC4142565

Genes

TGM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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