A Novel Mutation in the Transglutaminase-1 Gene in an Autosomal Recessive Congenital Ichthyosis Patient
Copyright policy )A Novel Mutation in the Transglutaminase-1 Gene in an Autosomal Recessive Congenital Ichthyosis Patient
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.
Transglutaminases, Base Sequence, Molecular Sequence Data, Infant, Genes, Recessive, Polymorphism, Single Nucleotide, Mutation, Humans, Female, Genetic Predisposition to Disease, Ichthyosis, Lamellar, Research Article
Transglutaminases, Base Sequence, Molecular Sequence Data, Infant, Genes, Recessive, Polymorphism, Single Nucleotide, Mutation, Humans, Female, Genetic Predisposition to Disease, Ichthyosis, Lamellar, Research Article
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