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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 en...

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Detalles Bibliográficos
Autores principales:	Vaigundan, D., Kalmankar, Neha V., Krishnappa, J., Gowda, N. Yellappa, Kutty, A. V. M., Krishnaswamy, Patnam R.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi Publishing Corporation 2014
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4142565/ https://www.ncbi.nlm.nih.gov/pubmed/25180191 http://dx.doi.org/10.1155/2014/706827

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