Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.
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| Title: | Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts. |
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| Authors: | Sharp AM, Messiaen LM, Page G, Antignac C, Gubler MC, Onuchic LF, Somlo S, Germino GG, Guay-Woodford LM |
| Source: | Journal of medical genetics [J Med Genet] 2005 Apr; Vol. 42 (4), pp. 336-49. |
| Publication Type: | Case Reports; Letter; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. |
| Journal Info: | Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 15805161 AccessLevel: 2 PubType: Report PubTypeId: report PreciseRelevancyScore: 0 |
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| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=15805161 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1136/jmg.2004.024489 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 336 Titles: – TitleFull: Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Sharp AM – PersonEntity: Name: NameFull: Messiaen LM – PersonEntity: Name: NameFull: Page G – PersonEntity: Name: NameFull: Antignac C – PersonEntity: Name: NameFull: Gubler MC – PersonEntity: Name: NameFull: Onuchic LF – PersonEntity: Name: NameFull: Somlo S – PersonEntity: Name: NameFull: Germino GG – PersonEntity: Name: NameFull: Guay-Woodford LM IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 04 Text: 2005 Apr Type: published Y: 2005 Identifiers: – Type: issn-electronic Value: 1468-6244 Numbering: – Type: volume Value: 42 – Type: issue Value: 4 Titles: – TitleFull: Journal of medical genetics Type: main |
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