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Identification of a case of SRD5A3-congenital disorder of glycosylation (CDG1Q) by exome sequencing
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Medknow Publications & Media Pvt Ltd
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6057243/ https://www.ncbi.nlm.nih.gov/pubmed/29998879 http://dx.doi.org/10.4103/ijmr.IJMR_820_16 |
| _version_ | 1783341489249583104 |
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| author | Gupta, Neerja Verma, Gaurav Kabra, Madhulika Bijarnia-Mahay, Sunita Ganapathy, Aparna |
| author_facet | Gupta, Neerja Verma, Gaurav Kabra, Madhulika Bijarnia-Mahay, Sunita Ganapathy, Aparna |
| author_sort | Gupta, Neerja |
| collection | PubMed |
| description | |
| format | Online Article Text |
| id | pubmed-6057243 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2018 |
| publisher | Medknow Publications & Media Pvt Ltd |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-60572432018-08-08 Identification of a case of SRD5A3-congenital disorder of glycosylation (CDG1Q) by exome sequencing Gupta, Neerja Verma, Gaurav Kabra, Madhulika Bijarnia-Mahay, Sunita Ganapathy, Aparna Indian J Med Res Correspondence Medknow Publications & Media Pvt Ltd 2018-04 /pmc/articles/PMC6057243/ /pubmed/29998879 http://dx.doi.org/10.4103/ijmr.IJMR_820_16 Text en Copyright: © 2018 Indian Journal of Medical Research http://creativecommons.org/licenses/by-nc-sa/4.0 This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms. |
| spellingShingle | Correspondence Gupta, Neerja Verma, Gaurav Kabra, Madhulika Bijarnia-Mahay, Sunita Ganapathy, Aparna Identification of a case of SRD5A3-congenital disorder of glycosylation (CDG1Q) by exome sequencing |
| title | Identification of a case of SRD5A3-congenital disorder of glycosylation (CDG1Q) by exome sequencing |
| title_full | Identification of a case of SRD5A3-congenital disorder of glycosylation (CDG1Q) by exome sequencing |
| title_fullStr | Identification of a case of SRD5A3-congenital disorder of glycosylation (CDG1Q) by exome sequencing |
| title_full_unstemmed | Identification of a case of SRD5A3-congenital disorder of glycosylation (CDG1Q) by exome sequencing |
| title_short | Identification of a case of SRD5A3-congenital disorder of glycosylation (CDG1Q) by exome sequencing |
| title_sort | identification of a case of srd5a3-congenital disorder of glycosylation (cdg1q) by exome sequencing |
| topic | Correspondence |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6057243/ https://www.ncbi.nlm.nih.gov/pubmed/29998879 http://dx.doi.org/10.4103/ijmr.IJMR_820_16 |
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