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

被引：3
|
作者：
Vaigundan, D. [1 ]
Kalmankar, Neha V. [2 ,3 ]
Krishnappa, J. [4 ]
Gowda, N. Yellappa [4 ]
Kutty, A. V. M. [1 ]
Krishnaswamy, Patnam R. [1 ]
机构：
[1] Sri Devaraj Urs Acad Higher Educ & Res, Dept Cell Biol & Mol Genet, Genom & Cent Res Lab, Tamaka 563101, Kolar, India
[2] Indian Inst Sci, Mol Biophys Unit, Bangalore 560012, Karnataka, India
[3] Natl Ctr Biol Sci, Bangalore 560065, Karnataka, India
[4] Sri Devaraj Urs Med Coll, Dept Paediat, Tamaka 563101, Kolar, India
来源：
BIOMED RESEARCH INTERNATIONAL | 2014年 / 2014卷
关键词：
LAMELLAR ICHTHYOSIS; EXPRESSION;
D O I：
10.1155/2014/706827
中图分类号：
Q81 [生物工程学（生物技术）]; Q93 [微生物学];
学科分类号：
071005 ; 0836 ; 090102 ; 100705 ;
摘要：
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.
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页数：6
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