A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease.
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| Title: | A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease. |
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| Authors: | Morgan, Neil V.1,2 n.v.morgan@bham.ac.uk, Hartley, Jane L.1,3, Setchell, Kenneth D. R.4, Simpson, Michael A.5, Brown, Rachel6, Tee, Louise1, Kirkham, Sian7, Pasha, Shanaz1, Trembath, Richard C.5, Maher, Eamonn R.1,8, Gissen, Paul9, Kelly, Deirdre A.3 |
| Source: | Orphanet Journal of Rare Diseases. 2013, Vol. 8 Issue 1, p1-5. 5p. 1 Diagram, 1 Graph. |
| Database: | Academic Search Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: asn DbLabel: Academic Search Ultimate An: 88013857 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=88013857 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/1750-1172-8-74 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 5 StartPage: 1 Titles: – TitleFull: A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Morgan, Neil V. – PersonEntity: Name: NameFull: Hartley, Jane L. – PersonEntity: Name: NameFull: Setchell, Kenneth D. R. – PersonEntity: Name: NameFull: Simpson, Michael A. – PersonEntity: Name: NameFull: Brown, Rachel – PersonEntity: Name: NameFull: Tee, Louise – PersonEntity: Name: NameFull: Kirkham, Sian – PersonEntity: Name: NameFull: Pasha, Shanaz – PersonEntity: Name: NameFull: Trembath, Richard C. – PersonEntity: Name: NameFull: Maher, Eamonn R. – PersonEntity: Name: NameFull: Gissen, Paul – PersonEntity: Name: NameFull: Kelly, Deirdre A. IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 06 Text: 2013 Type: published Y: 2013 Identifiers: – Type: issn-print Value: 17501172 Numbering: – Type: volume Value: 8 – Type: issue Value: 1 Titles: – TitleFull: Orphanet Journal of Rare Diseases Type: main |
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