Rare variant in the fumarate hydratase gene found in patients with clinical features of hereditary leiomyomatosis and renal cell cancer (HLRCC): A case series.
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| Title: | Rare variant in the fumarate hydratase gene found in patients with clinical features of hereditary leiomyomatosis and renal cell cancer (HLRCC): A case series. |
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| Authors: | Franke K; Master of Genetic Counselor Studies Program, Department of Pediatrics University of Wisconsin School of Medicine and Public Health Madison Wisconsin USA.; Present address: Department of Molecular and Medical Genetics Oregon Health & Science University Portland Oregon USA., Vagher J; Huntsman Cancer Institute at the University of Utah Salt Lake City Utah USA., Boyle J; Huntsman Cancer Institute at the University of Utah Salt Lake City Utah USA., Hall A; Master of Genetic Counselor Studies Program, Department of Pediatrics University of Wisconsin School of Medicine and Public Health Madison Wisconsin USA.; Center for Human Genomics and Precision Medicine University of Wisconsin School of Medicine and Public Health Madison Wisconsin USA., Smith-Simmer K; Master of Genetic Counselor Studies Program, Department of Pediatrics University of Wisconsin School of Medicine and Public Health Madison Wisconsin USA.; Oncology Genetics, University of Wisconsin Carbone Cancer Center UW Health Madison Wisconsin USA. |
| Source: | Clinical case reports [Clin Case Rep] 2022 Mar 01; Vol. 10 (3), pp. e05513. Date of Electronic Publication: 2022 Mar 01 (Print Publication: 2022). |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: John Wiley & Sons Country of Publication: England NLM ID: 101620385 Publication Model: eCollection Cited Medium: Print ISSN: 2050-0904 (Print) Linking ISSN: 20500904 NLM ISO Abbreviation: Clin Case Rep Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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| FullText | Links: – Type: pdflink Text: Availability: 1 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 35251648 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Rare variant in the fumarate hydratase gene found in patients with clinical features of hereditary leiomyomatosis and renal cell cancer (HLRCC): A case series. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Franke+K%22">Franke K</searchLink>; Master of Genetic Counselor Studies Program, Department of Pediatrics University of Wisconsin School of Medicine and Public Health Madison Wisconsin USA.; Present address: Department of Molecular and Medical Genetics Oregon Health & Science University Portland Oregon USA.<br /><searchLink fieldCode="AU" term="%22Vagher+J%22">Vagher J</searchLink>; Huntsman Cancer Institute at the University of Utah Salt Lake City Utah USA.<br /><searchLink fieldCode="AU" term="%22Boyle+J%22">Boyle J</searchLink>; Huntsman Cancer Institute at the University of Utah Salt Lake City Utah USA.<br /><searchLink fieldCode="AU" term="%22Hall+A%22">Hall A</searchLink>; Master of Genetic Counselor Studies Program, Department of Pediatrics University of Wisconsin School of Medicine and Public Health Madison Wisconsin USA.; Center for Human Genomics and Precision Medicine University of Wisconsin School of Medicine and Public Health Madison Wisconsin USA.<br /><searchLink fieldCode="AU" term="%22Smith-Simmer+K%22">Smith-Simmer K</searchLink>; Master of Genetic Counselor Studies Program, Department of Pediatrics University of Wisconsin School of Medicine and Public Health Madison Wisconsin USA.; Oncology Genetics, University of Wisconsin Carbone Cancer Center UW Health Madison Wisconsin USA. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101620385%22">Clinical case reports</searchLink> [Clin Case Rep] 2022 Mar 01; Vol. 10 (3), pp. e05513. <i>Date of Electronic Publication: </i>2022 Mar 01 (<i>Print Publication: </i>2022). – Name: TypePub Label: Publication Type Group: TypPub Data: Case Reports; Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22John+Wiley+%26+Sons%22">John Wiley & Sons </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101620385 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>2050-0904 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2220500904%22">20500904 </searchLink><i>NLM ISO Abbreviation: </i>Clin Case Rep <i>Subsets: </i>PubMed not MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=35251648 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/ccr3.5513 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: e05513 Titles: – TitleFull: Rare variant in the fumarate hydratase gene found in patients with clinical features of hereditary leiomyomatosis and renal cell cancer (HLRCC): A case series. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Franke K – PersonEntity: Name: NameFull: Vagher J – PersonEntity: Name: NameFull: Boyle J – PersonEntity: Name: NameFull: Hall A – PersonEntity: Name: NameFull: Smith-Simmer K IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 03 Text: 2022 Mar 01 Type: published Y: 2022 Identifiers: – Type: issn-print Value: 2050-0904 Numbering: – Type: volume Value: 10 – Type: issue Value: 3 Titles: – TitleFull: Clinical case reports Type: main |
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