The utility of whole exome sequencing in diagnosing Wilson disease: A case report.
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| Title: | The utility of whole exome sequencing in diagnosing Wilson disease: A case report. |
|---|---|
| Authors: | Palan MJ; Department of Pediatrics Oregon Health & Science University Portland Oregon USA., Simpson D; Department of Genetics Randall Children's Genetics and Metabolism Portland Oregon USA., Miranda C; Department of Genetics Randall Children's Genetics and Metabolism Portland Oregon USA., Hakar M; Department of Pathology and Laboratory Medicine Oregon Health & Science University Portland Oregon USA., Lin HC; Department of Pediatrics Oregon Health & Science University Portland Oregon USA.; Division of Pediatric Gastroenterology, Doernbecher Children's Hospital Portland Oregon USA. |
| Source: | JPGN reports [JPGN Rep] 2026 Apr 03. Date of Electronic Publication: 2026 Apr 03. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Wiley Country of Publication: United States NLM ID: 101773885 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2691-171X (Electronic) Linking ISSN: 2691171X NLM ISO Abbreviation: JPGN Rep |
| Database: | MEDLINE Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 42499731 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: The utility of whole exome sequencing in diagnosing Wilson disease: A case report. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Palan+MJ%22">Palan MJ</searchLink>; Department of Pediatrics Oregon Health & Science University Portland Oregon USA.<br /><searchLink fieldCode="AU" term="%22Simpson+D%22">Simpson D</searchLink>; Department of Genetics Randall Children's Genetics and Metabolism Portland Oregon USA.<br /><searchLink fieldCode="AU" term="%22Miranda+C%22">Miranda C</searchLink>; Department of Genetics Randall Children's Genetics and Metabolism Portland Oregon USA.<br /><searchLink fieldCode="AU" term="%22Hakar+M%22">Hakar M</searchLink>; Department of Pathology and Laboratory Medicine Oregon Health & Science University Portland Oregon USA.<br /><searchLink fieldCode="AU" term="%22Lin+HC%22">Lin HC</searchLink>; Department of Pediatrics Oregon Health & Science University Portland Oregon USA.; Division of Pediatric Gastroenterology, Doernbecher Children's Hospital Portland Oregon USA. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101773885%22">JPGN reports</searchLink> [JPGN Rep] 2026 Apr 03. <i>Date of Electronic Publication: </i>2026 Apr 03. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley%22">Wiley </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101773885 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2691-171X (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%222691171X%22">2691171X </searchLink><i>NLM ISO Abbreviation: </i>JPGN Rep |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=42499731 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/jpr3.70179 Languages: – Code: eng Text: English Titles: – TitleFull: The utility of whole exome sequencing in diagnosing Wilson disease: A case report. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Palan MJ – PersonEntity: Name: NameFull: Simpson D – PersonEntity: Name: NameFull: Miranda C – PersonEntity: Name: NameFull: Hakar M – PersonEntity: Name: NameFull: Lin HC IsPartOfRelationships: – BibEntity: Dates: – D: 03 M: 04 Text: 2026 Apr 03 Type: published Y: 2026 Identifiers: – Type: issn-electronic Value: 2691-171X Titles: – TitleFull: JPGN reports Type: main |
| ResultId | 1 |
