Novel mutation in the SLC12A3 gene in a Sri Lankan family with Gitelman syndrome & coexistent diabetes: a case report.
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| Title: | Novel mutation in the SLC12A3 gene in a Sri Lankan family with Gitelman syndrome & coexistent diabetes: a case report. |
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| 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 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 28446151 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| 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 |