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

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.

SUBMITTER: Vaigundan D

PROVIDER: S-EPMC4142565 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature

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

Vaigundan D D Kalmankar Neha V NV Krishnappa J J Gowda N Yellappa NY Kutty A V M AV Krishnaswamy Patnam R PR

BioMed research international 20140810

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. ...[more]

PMID: 25180191

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Mutations in transglutaminase 1 gene in autosomal recessive congenital ichthyosis in Egyptian families.

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Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation.

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