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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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Hindawi Publishing Corporation
2014
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| Materias: | |
| 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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| author | Vaigundan, D. Kalmankar, Neha V. Krishnappa, J. Gowda, N. Yellappa Kutty, A. V. M. Krishnaswamy, Patnam R. |
| author_facet | Vaigundan, D. Kalmankar, Neha V. Krishnappa, J. Gowda, N. Yellappa Kutty, A. V. M. Krishnaswamy, Patnam R. |
| author_sort | Vaigundan, D. |
| collection | PubMed |
| description | 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. |
| format | Online Article Text |
| id | pubmed-4142565 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2014 |
| publisher | Hindawi Publishing Corporation |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-41425652014-09-01 A Novel Mutation in the Transglutaminase-1 Gene in an Autosomal Recessive Congenital Ichthyosis Patient Vaigundan, D. Kalmankar, Neha V. Krishnappa, J. Gowda, N. Yellappa Kutty, A. V. M. Krishnaswamy, Patnam R. Biomed Res Int Research Article 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. Hindawi Publishing Corporation 2014 2014-08-10 /pmc/articles/PMC4142565/ /pubmed/25180191 http://dx.doi.org/10.1155/2014/706827 Text en Copyright © 2014 D. Vaigundan et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
| spellingShingle | Research Article Vaigundan, D. Kalmankar, Neha V. Krishnappa, J. Gowda, N. Yellappa Kutty, A. V. M. Krishnaswamy, Patnam R. A Novel Mutation in the Transglutaminase-1 Gene in an Autosomal Recessive Congenital Ichthyosis Patient |
| title | A Novel Mutation in the Transglutaminase-1 Gene in an Autosomal Recessive Congenital Ichthyosis Patient |
| title_full | A Novel Mutation in the Transglutaminase-1 Gene in an Autosomal Recessive Congenital Ichthyosis Patient |
| title_fullStr | A Novel Mutation in the Transglutaminase-1 Gene in an Autosomal Recessive Congenital Ichthyosis Patient |
| title_full_unstemmed | A Novel Mutation in the Transglutaminase-1 Gene in an Autosomal Recessive Congenital Ichthyosis Patient |
| title_short | A Novel Mutation in the Transglutaminase-1 Gene in an Autosomal Recessive Congenital Ichthyosis Patient |
| title_sort | novel mutation in the transglutaminase-1 gene in an autosomal recessive congenital ichthyosis patient |
| topic | Research Article |
| url | 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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