Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3.
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| Title: | Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. |
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| Authors: | Zeng WQ; Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Charlestown, MA 02129-2000, USA., Al-Yamani E, Acierno JS Jr, Slaugenhaupt S, Gillis T, MacDonald ME, Ozand PT, Gusella JF |
| Source: | American journal of human genetics [Am J Hum Genet] 2005 Jul; Vol. 77 (1), pp. 16-26. Date of Electronic Publication: 2005 May 03. |
| Publication Type: | Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. |
| Journal Info: | Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0002-9297 (Print) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 15871139 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Zeng+WQ%22">Zeng WQ</searchLink>; Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Charlestown, MA 02129-2000, USA.<br /><searchLink fieldCode="AU" term="%22Al-Yamani+E%22">Al-Yamani E</searchLink><br /><searchLink fieldCode="AU" term="%22Acierno+JS+Jr%22">Acierno JS Jr</searchLink><br /><searchLink fieldCode="AU" term="%22Slaugenhaupt+S%22">Slaugenhaupt S</searchLink><br /><searchLink fieldCode="AU" term="%22Gillis+T%22">Gillis T</searchLink><br /><searchLink fieldCode="AU" term="%22MacDonald+ME%22">MacDonald ME</searchLink><br /><searchLink fieldCode="AU" term="%22Ozand+PT%22">Ozand PT</searchLink><br /><searchLink fieldCode="AU" term="%22Gusella+JF%22">Gusella JF</searchLink> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%220370475%22">American journal of human genetics</searchLink> [Am J Hum Genet] 2005 Jul; Vol. 77 (1), pp. 16-26. <i>Date of Electronic Publication: </i>2005 May 03. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Cell+Press%22">Cell Press </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>0370475 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Print <i>ISSN: </i>0002-9297 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200029297%22">00029297 </searchLink><i>NLM ISO Abbreviation: </i>Am J Hum Genet <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=15871139 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1086/431216 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 16 Titles: – TitleFull: Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Zeng WQ – PersonEntity: Name: NameFull: Al-Yamani E – PersonEntity: Name: NameFull: Acierno JS Jr – PersonEntity: Name: NameFull: Slaugenhaupt S – PersonEntity: Name: NameFull: Gillis T – PersonEntity: Name: NameFull: MacDonald ME – PersonEntity: Name: NameFull: Ozand PT – PersonEntity: Name: NameFull: Gusella JF IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 07 Text: 2005 Jul Type: published Y: 2005 Identifiers: – Type: issn-print Value: 0002-9297 Numbering: – Type: volume Value: 77 – Type: issue Value: 1 Titles: – TitleFull: American journal of human genetics Type: main |
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