Phenotype-genotype correlation in Wilson disease in a large Lebanese family: association of c.2299insC with hepatic and of p. Ala1003Thr with neurologic phenotype.
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| Title: | Phenotype-genotype correlation in Wilson disease in a large Lebanese family: association of c.2299insC with hepatic and of p. Ala1003Thr with neurologic phenotype. |
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| Authors: | Usta J; Department of Biochemistry and Molecular Genetics; Faculty of Medicine, American University of Beirut, Beirut, Lebanon., Wehbeh A; Faculty of Medicine, American University of Beirut Medical Center, Beirut, Lebanon., Rida K; Department of Biochemistry and Molecular Genetics; Faculty of Medicine, American University of Beirut, Beirut, Lebanon., El-Rifai O; Department of Biochemistry and Molecular Genetics; Faculty of Medicine, American University of Beirut, Beirut, Lebanon., Estiphan TA; Faculty of Medicine, American University of Beirut Medical Center, Beirut, Lebanon., Majarian T; Department of Biochemistry and Molecular Genetics; Faculty of Medicine, American University of Beirut, Beirut, Lebanon., Barada K; Division of Gastroenterology, Department of Internal Medicine, American University of Beirut Medical Center, Faculty of Medicine, Beirut, Lebanon. |
| Source: | PloS one [PLoS One] 2014 Nov 12; Vol. 9 (11), pp. e109727. Date of Electronic Publication: 2014 Nov 12 (Print Publication: 2014). |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 25390358 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Phenotype-genotype correlation in Wilson disease in a large Lebanese family: association of c.2299insC with hepatic and of p. Ala1003Thr with neurologic phenotype. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Usta+J%22">Usta J</searchLink>; Department of Biochemistry and Molecular Genetics; Faculty of Medicine, American University of Beirut, Beirut, Lebanon.<br /><searchLink fieldCode="AU" term="%22Wehbeh+A%22">Wehbeh A</searchLink>; Faculty of Medicine, American University of Beirut Medical Center, Beirut, Lebanon.<br /><searchLink fieldCode="AU" term="%22Rida+K%22">Rida K</searchLink>; Department of Biochemistry and Molecular Genetics; Faculty of Medicine, American University of Beirut, Beirut, Lebanon.<br /><searchLink fieldCode="AU" term="%22El-Rifai+O%22">El-Rifai O</searchLink>; Department of Biochemistry and Molecular Genetics; Faculty of Medicine, American University of Beirut, Beirut, Lebanon.<br /><searchLink fieldCode="AU" term="%22Estiphan+TA%22">Estiphan TA</searchLink>; Faculty of Medicine, American University of Beirut Medical Center, Beirut, Lebanon.<br /><searchLink fieldCode="AU" term="%22Majarian+T%22">Majarian T</searchLink>; Department of Biochemistry and Molecular Genetics; Faculty of Medicine, American University of Beirut, Beirut, Lebanon.<br /><searchLink fieldCode="AU" term="%22Barada+K%22">Barada K</searchLink>; Division of Gastroenterology, Department of Internal Medicine, American University of Beirut Medical Center, Faculty of Medicine, Beirut, Lebanon. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101285081%22">PloS one</searchLink> [PLoS One] 2014 Nov 12; Vol. 9 (11), pp. e109727. <i>Date of Electronic Publication: </i>2014 Nov 12 (<i>Print Publication: </i>2014). – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Public+Library+of+Science%22">Public Library of Science </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101285081 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Internet <i>ISSN: </i>1932-6203 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2219326203%22">19326203 </searchLink><i>NLM ISO Abbreviation: </i>PLoS One <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=25390358 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1371/journal.pone.0109727 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: e109727 Titles: – TitleFull: Phenotype-genotype correlation in Wilson disease in a large Lebanese family: association of c.2299insC with hepatic and of p. Ala1003Thr with neurologic phenotype. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Usta J – PersonEntity: Name: NameFull: Wehbeh A – PersonEntity: Name: NameFull: Rida K – PersonEntity: Name: NameFull: El-Rifai O – PersonEntity: Name: NameFull: Estiphan TA – PersonEntity: Name: NameFull: Majarian T – PersonEntity: Name: NameFull: Barada K IsPartOfRelationships: – BibEntity: Dates: – D: 12 M: 11 Text: 2014 Nov 12 Type: published Y: 2014 Identifiers: – Type: issn-electronic Value: 1932-6203 Numbering: – Type: volume Value: 9 – Type: issue Value: 11 Titles: – TitleFull: PloS one Type: main |
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