A Novel Mutation in the Transglutaminase-1 Gene in an Autosomal Recessive Congenital Ichthyosis Patient | Zendy

D. Vaigundan | Zendy; Neha V. Kalmankar | Zendy; J Krishnappa | Zendy; N. Yellappa Gowda | Zendy; A. V. M. Kutty | Zendy; P. R. Krishnaswamy | Zendy

AI Assistant Blog Pricing

Home ZAIA Blog

Open Access

A Novel Mutation in the Transglutaminase-1 Gene in an Autosomal Recessive Congenital Ichthyosis Patient

Author(s) -

D. Vaigundan,

Neha V. Kalmankar,

J Krishnappa,

N. Yellappa Gowda,

A. V. M. Kutty,

P. R. Krishnaswamy

Publication year - 2014

Publication title -

biomed research international

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.772

H-Index - 126

eISSN - 2314-6141

pISSN - 2314-6133

DOI - 10.1155/2014/706827

Subject(s) - congenital ichthyosis , ichthyosis , mutation , tissue transglutaminase , genetics , biology , gene , mutation testing , medicine , enzyme , biochemistry

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.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research