Novel mutation in the SLC12A3 gene in a Sri Lankan family with Gitelman syndrome & coexistent diabetes: a case report.

Saved in:
Bibliographic Details
Title: Novel mutation in the SLC12A3 gene in a Sri Lankan family with Gitelman syndrome & coexistent diabetes: a case report.
Authors: Subasinghe CJ; Endocrinology Unit, Colombo South Teaching Hospital, Kalubowila, Sri Lanka., Sirisena ND; Human Genetics Unit, Faculty of Medicine, University of Colombo, Kynsey Road, Colombo 8, Sri Lanka., Herath C; Nephrology Unit, Sri Jayewardenepura General Hospital, Thalapathpitiya, Nugegoda, Sri Lanka., Berge KE; Unit for Cardiac and Cardiovascular Genetics, Department for Medical Genetics, Oslo University Hospital, Ullevaal, Oslo, Norway., Leren TP; Unit for Cardiac and Cardiovascular Genetics, Department for Medical Genetics, Oslo University Hospital, Ullevaal, Oslo, Norway., Bulugahapitiya U; Endocrinology Unit, Colombo South Teaching Hospital, Kalubowila, Sri Lanka., Dissanayake VHW; Human Genetics Unit, Faculty of Medicine, University of Colombo, Kynsey Road, Colombo 8, Sri Lanka. vajira@anat.cmb.ac.lk.
Source: BMC nephrology [BMC Nephrol] 2017 Apr 26; Vol. 18 (1), pp. 140. Date of Electronic Publication: 2017 Apr 26.
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 100967793 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2369 (Electronic) Linking ISSN: 14712369 NLM ISO Abbreviation: BMC Nephrol Subsets: MEDLINE
Database: MEDLINE Ultimate
FullText Links:
  – Type: pdflink
Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 28446151
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Novel mutation in the SLC12A3 gene in a Sri Lankan family with Gitelman syndrome & coexistent diabetes: a case report.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Subasinghe+CJ%22">Subasinghe CJ</searchLink>; Endocrinology Unit, Colombo South Teaching Hospital, Kalubowila, Sri Lanka.<br /><searchLink fieldCode="AU" term="%22Sirisena+ND%22">Sirisena ND</searchLink>; Human Genetics Unit, Faculty of Medicine, University of Colombo, Kynsey Road, Colombo 8, Sri Lanka.<br /><searchLink fieldCode="AU" term="%22Herath+C%22">Herath C</searchLink>; Nephrology Unit, Sri Jayewardenepura General Hospital, Thalapathpitiya, Nugegoda, Sri Lanka.<br /><searchLink fieldCode="AU" term="%22Berge+KE%22">Berge KE</searchLink>; Unit for Cardiac and Cardiovascular Genetics, Department for Medical Genetics, Oslo University Hospital, Ullevaal, Oslo, Norway.<br /><searchLink fieldCode="AU" term="%22Leren+TP%22">Leren TP</searchLink>; Unit for Cardiac and Cardiovascular Genetics, Department for Medical Genetics, Oslo University Hospital, Ullevaal, Oslo, Norway.<br /><searchLink fieldCode="AU" term="%22Bulugahapitiya+U%22">Bulugahapitiya U</searchLink>; Endocrinology Unit, Colombo South Teaching Hospital, Kalubowila, Sri Lanka.<br /><searchLink fieldCode="AU" term="%22Dissanayake+VHW%22">Dissanayake VHW</searchLink>; Human Genetics Unit, Faculty of Medicine, University of Colombo, Kynsey Road, Colombo 8, Sri Lanka. vajira@anat.cmb.ac.lk.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22100967793%22">BMC nephrology</searchLink> [BMC Nephrol] 2017 Apr 26; Vol. 18 (1), pp. 140. <i>Date of Electronic Publication: </i>2017 Apr 26.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Case Reports; Journal Article
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>100967793 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1471-2369 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214712369%22">14712369 </searchLink><i>NLM ISO Abbreviation: </i>BMC Nephrol <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=28446151
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1186/s12882-017-0563-0
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 140
    Titles:
      – TitleFull: Novel mutation in the SLC12A3 gene in a Sri Lankan family with Gitelman syndrome & coexistent diabetes: a case report.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Subasinghe CJ
      – PersonEntity:
          Name:
            NameFull: Sirisena ND
      – PersonEntity:
          Name:
            NameFull: Herath C
      – PersonEntity:
          Name:
            NameFull: Berge KE
      – PersonEntity:
          Name:
            NameFull: Leren TP
      – PersonEntity:
          Name:
            NameFull: Bulugahapitiya U
      – PersonEntity:
          Name:
            NameFull: Dissanayake VHW
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 26
              M: 04
              Text: 2017 Apr 26
              Type: published
              Y: 2017
          Identifiers:
            – Type: issn-electronic
              Value: 1471-2369
          Numbering:
            – Type: volume
              Value: 18
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: BMC nephrology
              Type: main
ResultId 1