Heterozygous mutations in AAGAB cause type 1 punctate palmoplantar keratoderma with evidence for increased growth factor signaling.
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| Title: | Heterozygous mutations in AAGAB cause type 1 punctate palmoplantar keratoderma with evidence for increased growth factor signaling. |
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| Authors: | Pöhler E; Dermatology and Genetic Medicine, College of Life Sciences and College of Medicine, Dentistry and Nursing, University of Dundee, Dundee, UK., Zamiri M; Department of Dermatology, University Hospital Crosshouse, Kilmarnock, UK., Harkins CP; Dermatology and Genetic Medicine, College of Life Sciences and College of Medicine, Dentistry and Nursing, University of Dundee, Dundee, UK; Department of Dermatology, Ninewells Hospital and Medical School, Dundee, UK., Salas-Alanis JC; Basic Science Department, Universidad de Monterrey, Nuevo León, México., Perkins W; Department of Dermatology, Nottingham University Hospitals NHS Trust, Nottingham, UK., Smith FJD; Dermatology and Genetic Medicine, College of Life Sciences and College of Medicine, Dentistry and Nursing, University of Dundee, Dundee, UK., Irwin McLean WH; Dermatology and Genetic Medicine, College of Life Sciences and College of Medicine, Dentistry and Nursing, University of Dundee, Dundee, UK., Brown SJ; Dermatology and Genetic Medicine, College of Life Sciences and College of Medicine, Dentistry and Nursing, University of Dundee, Dundee, UK; Department of Dermatology, Ninewells Hospital and Medical School, Dundee, UK. Electronic address: s.j.brown@dundee.ac.uk. |
| Source: | The Journal of investigative dermatology [J Invest Dermatol] 2013 Dec; Vol. 133 (12), pp. 2805-2808. Date of Electronic Publication: 2013 Jun 06. |
| Publication Type: | Case Reports; Letter; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Elsevier Country of Publication: United States NLM ID: 0426720 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1523-1747 (Electronic) Linking ISSN: 0022202X NLM ISO Abbreviation: J Invest Dermatol Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 23743648 AccessLevel: 2 PubType: Report PubTypeId: report PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Heterozygous mutations in AAGAB cause type 1 punctate palmoplantar keratoderma with evidence for increased growth factor signaling. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Pöhler+E%22">Pöhler E</searchLink>; Dermatology and Genetic Medicine, College of Life Sciences and College of Medicine, Dentistry and Nursing, University of Dundee, Dundee, UK.<br /><searchLink fieldCode="AU" term="%22Zamiri+M%22">Zamiri M</searchLink>; Department of Dermatology, University Hospital Crosshouse, Kilmarnock, UK.<br /><searchLink fieldCode="AU" term="%22Harkins+CP%22">Harkins CP</searchLink>; Dermatology and Genetic Medicine, College of Life Sciences and College of Medicine, Dentistry and Nursing, University of Dundee, Dundee, UK; Department of Dermatology, Ninewells Hospital and Medical School, Dundee, UK.<br /><searchLink fieldCode="AU" term="%22Salas-Alanis+JC%22">Salas-Alanis JC</searchLink>; Basic Science Department, Universidad de Monterrey, Nuevo León, México.<br /><searchLink fieldCode="AU" term="%22Perkins+W%22">Perkins W</searchLink>; Department of Dermatology, Nottingham University Hospitals NHS Trust, Nottingham, UK.<br /><searchLink fieldCode="AU" term="%22Smith+FJD%22">Smith FJD</searchLink>; Dermatology and Genetic Medicine, College of Life Sciences and College of Medicine, Dentistry and Nursing, University of Dundee, Dundee, UK.<br /><searchLink fieldCode="AU" term="%22Irwin+McLean+WH%22">Irwin McLean WH</searchLink>; Dermatology and Genetic Medicine, College of Life Sciences and College of Medicine, Dentistry and Nursing, University of Dundee, Dundee, UK.<br /><searchLink fieldCode="AU" term="%22Brown+SJ%22">Brown SJ</searchLink>; Dermatology and Genetic Medicine, College of Life Sciences and College of Medicine, Dentistry and Nursing, University of Dundee, Dundee, UK; Department of Dermatology, Ninewells Hospital and Medical School, Dundee, UK. Electronic address: s.j.brown@dundee.ac.uk. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%220426720%22">The Journal of investigative dermatology</searchLink> [J Invest Dermatol] 2013 Dec; Vol. 133 (12), pp. 2805-2808. <i>Date of Electronic Publication: </i>2013 Jun 06. – Name: TypePub Label: Publication Type Group: TypPub Data: Case Reports; Letter; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier%22">Elsevier </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>0426720 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1523-1747 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%220022202X%22">0022202X </searchLink><i>NLM ISO Abbreviation: </i>J Invest Dermatol <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=23743648 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1038/jid.2013.243 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 2805 Titles: – TitleFull: Heterozygous mutations in AAGAB cause type 1 punctate palmoplantar keratoderma with evidence for increased growth factor signaling. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Pöhler E – PersonEntity: Name: NameFull: Zamiri M – PersonEntity: Name: NameFull: Harkins CP – PersonEntity: Name: NameFull: Salas-Alanis JC – PersonEntity: Name: NameFull: Perkins W – PersonEntity: Name: NameFull: Smith FJD – PersonEntity: Name: NameFull: Irwin McLean WH – PersonEntity: Name: NameFull: Brown SJ IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 12 Text: 2013 Dec Type: published Y: 2013 Identifiers: – Type: issn-electronic Value: 1523-1747 Numbering: – Type: volume Value: 133 – Type: issue Value: 12 Titles: – TitleFull: The Journal of investigative dermatology Type: main |
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