View in EDS

The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype.

Saved in:
Bibliographic Details
Title: The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype.
Authors: Hamilton AJ; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, Devon, UK., Bingham C, McDonald TJ, Cook PR, Caswell RC, Weedon MN, Oram RA, Shields BM, Shepherd M, Inward CD, Hamilton-Shield JP, Kohlhase J, Ellard S, Hattersley AT
Source: Journal of medical genetics [J Med Genet] 2014 Mar; Vol. 51 (3), pp. 165-9. Date of Electronic Publication: 2013 Nov 27.
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic 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
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 24285859
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Hamilton+AJ%22">Hamilton AJ</searchLink>; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, Devon, UK.<br /><searchLink fieldCode="AU" term="%22Bingham+C%22">Bingham C</searchLink><br /><searchLink fieldCode="AU" term="%22McDonald+TJ%22">McDonald TJ</searchLink><br /><searchLink fieldCode="AU" term="%22Cook+PR%22">Cook PR</searchLink><br /><searchLink fieldCode="AU" term="%22Caswell+RC%22">Caswell RC</searchLink><br /><searchLink fieldCode="AU" term="%22Weedon+MN%22">Weedon MN</searchLink><br /><searchLink fieldCode="AU" term="%22Oram+RA%22">Oram RA</searchLink><br /><searchLink fieldCode="AU" term="%22Shields+BM%22">Shields BM</searchLink><br /><searchLink fieldCode="AU" term="%22Shepherd+M%22">Shepherd M</searchLink><br /><searchLink fieldCode="AU" term="%22Inward+CD%22">Inward CD</searchLink><br /><searchLink fieldCode="AU" term="%22Hamilton-Shield+JP%22">Hamilton-Shield JP</searchLink><br /><searchLink fieldCode="AU" term="%22Kohlhase+J%22">Kohlhase J</searchLink><br /><searchLink fieldCode="AU" term="%22Ellard+S%22">Ellard S</searchLink><br /><searchLink fieldCode="AU" term="%22Hattersley+AT%22">Hattersley AT</searchLink>
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%222985087R%22">Journal of medical genetics</searchLink> [J Med Genet] 2014 Mar; Vol. 51 (3), pp. 165-9. <i>Date of Electronic Publication: </i>2013 Nov 27.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22British+Medical+Association%22">British Medical Association </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>2985087R <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1468-6244 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200222593%22">00222593 </searchLink><i>NLM ISO Abbreviation: </i>J Med Genet <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=24285859
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1136/jmedgenet-2013-102066
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 165
    Titles:
      – TitleFull: The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Hamilton AJ
      – PersonEntity:
          Name:
            NameFull: Bingham C
      – PersonEntity:
          Name:
            NameFull: McDonald TJ
      – PersonEntity:
          Name:
            NameFull: Cook PR
      – PersonEntity:
          Name:
            NameFull: Caswell RC
      – PersonEntity:
          Name:
            NameFull: Weedon MN
      – PersonEntity:
          Name:
            NameFull: Oram RA
      – PersonEntity:
          Name:
            NameFull: Shields BM
      – PersonEntity:
          Name:
            NameFull: Shepherd M
      – PersonEntity:
          Name:
            NameFull: Inward CD
      – PersonEntity:
          Name:
            NameFull: Hamilton-Shield JP
      – PersonEntity:
          Name:
            NameFull: Kohlhase J
      – PersonEntity:
          Name:
            NameFull: Ellard S
      – PersonEntity:
          Name:
            NameFull: Hattersley AT
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 03
              Text: 2014 Mar
              Type: published
              Y: 2014
          Identifiers:
            – Type: issn-electronic
              Value: 1468-6244
          Numbering:
            – Type: volume
              Value: 51
            – Type: issue
              Value: 3
          Titles:
            – TitleFull: Journal of medical genetics
              Type: main
ResultId 1