Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria.
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| Title: | Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. |
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| Authors: | Sloan JL; Genetics and Molecular Biology Branch, National Human Genome Research Institute, US National Institutes of Health, Bethesda, Maryland, USA., Johnston JJ, Manoli I, Chandler RJ, Krause C, Carrillo-Carrasco N, Chandrasekaran SD, Sysol JR, O'Brien K, Hauser NS, Sapp JC, Dorward HM, Huizing M, Barshop BA, Berry SA, James PM, Champaigne NL, de Lonlay P, Valayannopoulos V, Geschwind MD, Gavrilov DK, Nyhan WL, Biesecker LG, Venditti CP |
| Corporate Authors: | NIH Intramural Sequencing Center Group |
| Source: | Nature genetics [Nat Genet] 2011 Aug 14; Vol. 43 (9), pp. 883-6. Date of Electronic Publication: 2011 Aug 14. |
| Publication Type: | Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural |
| Journal Info: | Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 21841779 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=21841779 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1038/ng.908 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 883 Titles: – TitleFull: Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Sloan JL – PersonEntity: Name: NameFull: Johnston JJ – PersonEntity: Name: NameFull: Manoli I – PersonEntity: Name: NameFull: Chandler RJ – PersonEntity: Name: NameFull: Krause C – PersonEntity: Name: NameFull: Carrillo-Carrasco N – PersonEntity: Name: NameFull: Chandrasekaran SD – PersonEntity: Name: NameFull: Sysol JR – PersonEntity: Name: NameFull: O'Brien K – PersonEntity: Name: NameFull: Hauser NS – PersonEntity: Name: NameFull: Sapp JC – PersonEntity: Name: NameFull: Dorward HM – PersonEntity: Name: NameFull: Huizing M – PersonEntity: Name: NameFull: Barshop BA – PersonEntity: Name: NameFull: Berry SA – PersonEntity: Name: NameFull: James PM – PersonEntity: Name: NameFull: Champaigne NL – PersonEntity: Name: NameFull: de Lonlay P – PersonEntity: Name: NameFull: Valayannopoulos V – PersonEntity: Name: NameFull: Geschwind MD – PersonEntity: Name: NameFull: Gavrilov DK – PersonEntity: Name: NameFull: Nyhan WL – PersonEntity: Name: NameFull: Biesecker LG – PersonEntity: Name: NameFull: Venditti CP IsPartOfRelationships: – BibEntity: Dates: – D: 14 M: 08 Text: 2011 Aug 14 Type: published Y: 2011 Identifiers: – Type: issn-electronic Value: 1546-1718 Numbering: – Type: volume Value: 43 – Type: issue Value: 9 Titles: – TitleFull: Nature genetics Type: main |
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