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Exome sequencing identifies ACSF3 as the cause of Combined Malonic and Methylmalonic Aciduria
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
2011
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3163731/ https://www.ncbi.nlm.nih.gov/pubmed/21841779 http://dx.doi.org/10.1038/ng.908 |
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| author | Sloan, Jennifer L. Johnston, Jennifer J. Manoli, Irini Chandler, Randy J. Krause, Caitlin Carrillo-Carrasco, Nuria Chandrasekaran, Suma D. Sysol, Justin R. O’Brien, Kevin Hauser, Natalie S. Sapp, Julie C. Dorward, Heidi M. Huizing, Marjan Barshop, Bruce A. Berry, Susan A. James, Philip M. Champaigne, Neena L. de Lonlay, Pascale Valayannopoulos, Vassilli Geschwind, Michael D. Gavrilov, Dimitar K. Nyhan, William L. Biesecker, Leslie G. Venditti, Charles P. |
| author_facet | Sloan, Jennifer L. Johnston, Jennifer J. Manoli, Irini Chandler, Randy J. Krause, Caitlin Carrillo-Carrasco, Nuria Chandrasekaran, Suma D. Sysol, Justin R. O’Brien, Kevin Hauser, Natalie S. Sapp, Julie C. Dorward, Heidi M. Huizing, Marjan Barshop, Bruce A. Berry, Susan A. James, Philip M. Champaigne, Neena L. de Lonlay, Pascale Valayannopoulos, Vassilli Geschwind, Michael D. Gavrilov, Dimitar K. Nyhan, William L. Biesecker, Leslie G. Venditti, Charles P. |
| author_sort | Sloan, Jennifer L. |
| collection | PubMed |
| description | |
| format | Online Article Text |
| id | pubmed-3163731 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2011 |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-31637312012-03-01 Exome sequencing identifies ACSF3 as the cause of Combined Malonic and Methylmalonic Aciduria Sloan, Jennifer L. Johnston, Jennifer J. Manoli, Irini Chandler, Randy J. Krause, Caitlin Carrillo-Carrasco, Nuria Chandrasekaran, Suma D. Sysol, Justin R. O’Brien, Kevin Hauser, Natalie S. Sapp, Julie C. Dorward, Heidi M. Huizing, Marjan Barshop, Bruce A. Berry, Susan A. James, Philip M. Champaigne, Neena L. de Lonlay, Pascale Valayannopoulos, Vassilli Geschwind, Michael D. Gavrilov, Dimitar K. Nyhan, William L. Biesecker, Leslie G. Venditti, Charles P. Nat Genet Article 2011-08-14 /pmc/articles/PMC3163731/ /pubmed/21841779 http://dx.doi.org/10.1038/ng.908 Text en Users may view, print, copy, download and text and data- mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use: http://www.nature.com/authors/editorial_policies/license.html#terms |
| spellingShingle | Article Sloan, Jennifer L. Johnston, Jennifer J. Manoli, Irini Chandler, Randy J. Krause, Caitlin Carrillo-Carrasco, Nuria Chandrasekaran, Suma D. Sysol, Justin R. O’Brien, Kevin Hauser, Natalie S. Sapp, Julie C. Dorward, Heidi M. Huizing, Marjan Barshop, Bruce A. Berry, Susan A. James, Philip M. Champaigne, Neena L. de Lonlay, Pascale Valayannopoulos, Vassilli Geschwind, Michael D. Gavrilov, Dimitar K. Nyhan, William L. Biesecker, Leslie G. Venditti, Charles P. Exome sequencing identifies ACSF3 as the cause of Combined Malonic and Methylmalonic Aciduria |
| title | Exome sequencing identifies ACSF3 as the cause of Combined Malonic and Methylmalonic Aciduria |
| title_full | Exome sequencing identifies ACSF3 as the cause of Combined Malonic and Methylmalonic Aciduria |
| title_fullStr | Exome sequencing identifies ACSF3 as the cause of Combined Malonic and Methylmalonic Aciduria |
| title_full_unstemmed | Exome sequencing identifies ACSF3 as the cause of Combined Malonic and Methylmalonic Aciduria |
| title_short | Exome sequencing identifies ACSF3 as the cause of Combined Malonic and Methylmalonic Aciduria |
| title_sort | exome sequencing identifies acsf3 as the cause of combined malonic and methylmalonic aciduria |
| topic | Article |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3163731/ https://www.ncbi.nlm.nih.gov/pubmed/21841779 http://dx.doi.org/10.1038/ng.908 |
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