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Massively parallel sequencing identifies a previously unrecognized X-linked disorder resulting in lethality in male infants owing to amino-terminal acetyltransferase deficiency
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2011
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3439021/ http://dx.doi.org/10.1186/gb-2011-12-s1-p13 |
| _version_ | 1782242944464453632 |
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| author | Rope, Alan F Wang, Kai Evjenth, Rune Xing, Jinchuan Johnston, Jennifer J Swensen, Jeffrey J Johnson, W Evan Moore, Barry Huff, Chad D Bird, Lynne M Carey, John C Opitz, John M Stevens, Cathy A Schank, Christa Fain, Heidi Deborah Robison, Reid Dalley, Brian Chin, Steven South, Sarah T Pysher, Theodore J Jorde, Lynn B Hakonarson, Hakon Lillehaug, Johan R Biesecker, Leslie G Yandell, Mark Arnesen, Thomas Lyon, Gholson J |
| author_facet | Rope, Alan F Wang, Kai Evjenth, Rune Xing, Jinchuan Johnston, Jennifer J Swensen, Jeffrey J Johnson, W Evan Moore, Barry Huff, Chad D Bird, Lynne M Carey, John C Opitz, John M Stevens, Cathy A Schank, Christa Fain, Heidi Deborah Robison, Reid Dalley, Brian Chin, Steven South, Sarah T Pysher, Theodore J Jorde, Lynn B Hakonarson, Hakon Lillehaug, Johan R Biesecker, Leslie G Yandell, Mark Arnesen, Thomas Lyon, Gholson J |
| author_sort | Rope, Alan F |
| collection | PubMed |
| description | |
| format | Online Article Text |
| id | pubmed-3439021 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2011 |
| publisher | BioMed Central |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-34390212012-09-26 Massively parallel sequencing identifies a previously unrecognized X-linked disorder resulting in lethality in male infants owing to amino-terminal acetyltransferase deficiency Rope, Alan F Wang, Kai Evjenth, Rune Xing, Jinchuan Johnston, Jennifer J Swensen, Jeffrey J Johnson, W Evan Moore, Barry Huff, Chad D Bird, Lynne M Carey, John C Opitz, John M Stevens, Cathy A Schank, Christa Fain, Heidi Deborah Robison, Reid Dalley, Brian Chin, Steven South, Sarah T Pysher, Theodore J Jorde, Lynn B Hakonarson, Hakon Lillehaug, Johan R Biesecker, Leslie G Yandell, Mark Arnesen, Thomas Lyon, Gholson J Genome Biol Poster Presentation BioMed Central 2011 2011-09-19 /pmc/articles/PMC3439021/ http://dx.doi.org/10.1186/gb-2011-12-s1-p13 Text en Copyright ©2011 Rope et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
| spellingShingle | Poster Presentation Rope, Alan F Wang, Kai Evjenth, Rune Xing, Jinchuan Johnston, Jennifer J Swensen, Jeffrey J Johnson, W Evan Moore, Barry Huff, Chad D Bird, Lynne M Carey, John C Opitz, John M Stevens, Cathy A Schank, Christa Fain, Heidi Deborah Robison, Reid Dalley, Brian Chin, Steven South, Sarah T Pysher, Theodore J Jorde, Lynn B Hakonarson, Hakon Lillehaug, Johan R Biesecker, Leslie G Yandell, Mark Arnesen, Thomas Lyon, Gholson J Massively parallel sequencing identifies a previously unrecognized X-linked disorder resulting in lethality in male infants owing to amino-terminal acetyltransferase deficiency |
| title | Massively parallel sequencing identifies a previously unrecognized X-linked disorder resulting in lethality in male infants owing to amino-terminal acetyltransferase deficiency |
| title_full | Massively parallel sequencing identifies a previously unrecognized X-linked disorder resulting in lethality in male infants owing to amino-terminal acetyltransferase deficiency |
| title_fullStr | Massively parallel sequencing identifies a previously unrecognized X-linked disorder resulting in lethality in male infants owing to amino-terminal acetyltransferase deficiency |
| title_full_unstemmed | Massively parallel sequencing identifies a previously unrecognized X-linked disorder resulting in lethality in male infants owing to amino-terminal acetyltransferase deficiency |
| title_short | Massively parallel sequencing identifies a previously unrecognized X-linked disorder resulting in lethality in male infants owing to amino-terminal acetyltransferase deficiency |
| title_sort | massively parallel sequencing identifies a previously unrecognized x-linked disorder resulting in lethality in male infants owing to amino-terminal acetyltransferase deficiency |
| topic | Poster Presentation |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3439021/ http://dx.doi.org/10.1186/gb-2011-12-s1-p13 |
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