New homozygous SPINK5 mutation, p.Gln333X, in a Turkish pedigree with Netherton syndrome.
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| Title: | New homozygous SPINK5 mutation, p.Gln333X, in a Turkish pedigree with Netherton syndrome. |
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| Authors: | Fong, K.1, Akdeniz, S.2, Isi, H.2, Taskesen, M.2, McGrath, J. A.1 john.mcgrath@kcl.ac.uk, Lai-Cheong, J. E.1 |
| Source: | Clinical & Experimental Dermatology. Jun2011, Vol. 36 Issue 4, p412-415. 4p. 1 Color Photograph, 1 Diagram. |
| Database: | Academic Search Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: asn DbLabel: Academic Search Ultimate An: 60573158 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=60573158 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1111/j.1365-2230.2010.03976.x Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 4 StartPage: 412 Titles: – TitleFull: New homozygous SPINK5 mutation, p.Gln333X, in a Turkish pedigree with Netherton syndrome. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Fong, K. – PersonEntity: Name: NameFull: Akdeniz, S. – PersonEntity: Name: NameFull: Isi, H. – PersonEntity: Name: NameFull: Taskesen, M. – PersonEntity: Name: NameFull: McGrath, J. A. – PersonEntity: Name: NameFull: Lai-Cheong, J. E. IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 06 Text: Jun2011 Type: published Y: 2011 Identifiers: – Type: issn-print Value: 03076938 Numbering: – Type: volume Value: 36 – Type: issue Value: 4 Titles: – TitleFull: Clinical & Experimental Dermatology Type: main |
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