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Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2016
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5142113/ https://www.ncbi.nlm.nih.gov/pubmed/27912046 http://dx.doi.org/10.1016/j.ajhg.2016.11.001 |
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| author | Thompson, Kyle Majd, Homa Dallabona, Cristina Reinson, Karit King, Martin S. Alston, Charlotte L. He, Langping Lodi, Tiziana Jones, Simon A. Fattal-Valevski, Aviva Fraenkel, Nitay D. Saada, Ann Haham, Alon Isohanni, Pirjo Vara, Roshni Barbosa, Inês A. Simpson, Michael A. Deshpande, Charu Puusepp, Sanna Bonnen, Penelope E. Rodenburg, Richard J. Suomalainen, Anu Õunap, Katrin Elpeleg, Orly Ferrero, Ileana McFarland, Robert Kunji, Edmund R.S. Taylor, Robert W. |
| author_facet | Thompson, Kyle Majd, Homa Dallabona, Cristina Reinson, Karit King, Martin S. Alston, Charlotte L. He, Langping Lodi, Tiziana Jones, Simon A. Fattal-Valevski, Aviva Fraenkel, Nitay D. Saada, Ann Haham, Alon Isohanni, Pirjo Vara, Roshni Barbosa, Inês A. Simpson, Michael A. Deshpande, Charu Puusepp, Sanna Bonnen, Penelope E. Rodenburg, Richard J. Suomalainen, Anu Õunap, Katrin Elpeleg, Orly Ferrero, Ileana McFarland, Robert Kunji, Edmund R.S. Taylor, Robert W. |
| author_sort | Thompson, Kyle |
| collection | PubMed |
| description | |
| format | Online Article Text |
| id | pubmed-5142113 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2016 |
| publisher | Elsevier |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-51421132016-12-13 Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number Thompson, Kyle Majd, Homa Dallabona, Cristina Reinson, Karit King, Martin S. Alston, Charlotte L. He, Langping Lodi, Tiziana Jones, Simon A. Fattal-Valevski, Aviva Fraenkel, Nitay D. Saada, Ann Haham, Alon Isohanni, Pirjo Vara, Roshni Barbosa, Inês A. Simpson, Michael A. Deshpande, Charu Puusepp, Sanna Bonnen, Penelope E. Rodenburg, Richard J. Suomalainen, Anu Õunap, Katrin Elpeleg, Orly Ferrero, Ileana McFarland, Robert Kunji, Edmund R.S. Taylor, Robert W. Am J Hum Genet Correction Elsevier 2016-12-01 2016-12-01 /pmc/articles/PMC5142113/ /pubmed/27912046 http://dx.doi.org/10.1016/j.ajhg.2016.11.001 Text en © 2016 The Author(s) http://creativecommons.org/licenses/by/4.0/ This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/). |
| spellingShingle | Correction Thompson, Kyle Majd, Homa Dallabona, Cristina Reinson, Karit King, Martin S. Alston, Charlotte L. He, Langping Lodi, Tiziana Jones, Simon A. Fattal-Valevski, Aviva Fraenkel, Nitay D. Saada, Ann Haham, Alon Isohanni, Pirjo Vara, Roshni Barbosa, Inês A. Simpson, Michael A. Deshpande, Charu Puusepp, Sanna Bonnen, Penelope E. Rodenburg, Richard J. Suomalainen, Anu Õunap, Katrin Elpeleg, Orly Ferrero, Ileana McFarland, Robert Kunji, Edmund R.S. Taylor, Robert W. Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number |
| title | Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number |
| title_full | Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number |
| title_fullStr | Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number |
| title_full_unstemmed | Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number |
| title_short | Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number |
| title_sort | recurrent de novo dominant mutations in slc25a4 cause severe early-onset mitochondrial disease and loss of mitochondrial dna copy number |
| topic | Correction |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5142113/ https://www.ncbi.nlm.nih.gov/pubmed/27912046 http://dx.doi.org/10.1016/j.ajhg.2016.11.001 |
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