Genotype and phenotype correlations in Iranian patients with hyperinsulinaemic hypoglycaemia.

2.50
Hdl Handle:
http://hdl.handle.net/11287/618159
Title:
Genotype and phenotype correlations in Iranian patients with hyperinsulinaemic hypoglycaemia.
Authors:
Senniappan, S.; Sadeghizadeh, A.; Flanagan, Sarah; Ellard, Sian ( 0000-0002-7620-5526 ) ; Hashemipour, M.; Hosseinzadeh, M.; Salehi, M.; Hussain, K.
Abstract:
Hyperinsulinaemic hypoglycaemia (HH) is a group of clinically and genetically heterogeneous disorders characterized by unregulated insulin secretion. Abnormalities in nine different genes (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, HNF4A, UCP2 and HNF1A) have been reported in HH, the most common being ABCC8 and KCNJ11. We describe the genetic aetiology and phenotype of Iranian patients with HH.
Citation:
Genotype and phenotype correlations in Iranian patients with hyperinsulinaemic hypoglycaemia. 2015, 8:350 BMC Res Notes
Publisher:
BioMed Central
Journal:
BMC Research Notes
Issue Date:
2015
URI:
http://hdl.handle.net/11287/618159
DOI:
10.1186/s13104-015-1319-1
PubMed ID:
26268944
Additional Links:
http://bmcresnotes.biomedcentral.com/articles/10.1186/s13104-015-1319-1
Note:
This article is freely available via Open Access. Click on the 'Additional Link' above to access the full text.
Type:
Journal Article
Language:
en
ISSN:
1756-0500
Appears in Collections:
2015 RD&E publications; Molecular Genetics; Honorary contracts publications

Full metadata record

DC FieldValue Language
dc.contributor.authorSenniappan, S.en
dc.contributor.authorSadeghizadeh, A.en
dc.contributor.authorFlanagan, Sarahen
dc.contributor.authorEllard, Sianen
dc.contributor.authorHashemipour, M.en
dc.contributor.authorHosseinzadeh, M.en
dc.contributor.authorSalehi, M.en
dc.contributor.authorHussain, K.en
dc.date.accessioned2016-08-10T09:52:37Z-
dc.date.available2016-08-10T09:52:37Z-
dc.date.issued2015-
dc.identifier.citationGenotype and phenotype correlations in Iranian patients with hyperinsulinaemic hypoglycaemia. 2015, 8:350 BMC Res Notesen
dc.identifier.issn1756-0500-
dc.identifier.pmid26268944-
dc.identifier.doi10.1186/s13104-015-1319-1-
dc.identifier.urihttp://hdl.handle.net/11287/618159-
dc.description.abstractHyperinsulinaemic hypoglycaemia (HH) is a group of clinically and genetically heterogeneous disorders characterized by unregulated insulin secretion. Abnormalities in nine different genes (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, HNF4A, UCP2 and HNF1A) have been reported in HH, the most common being ABCC8 and KCNJ11. We describe the genetic aetiology and phenotype of Iranian patients with HH.en
dc.language.isoenen
dc.publisherBioMed Centralen
dc.relation.urlhttp://bmcresnotes.biomedcentral.com/articles/10.1186/s13104-015-1319-1en
dc.rightsArchived with thanks to BMC research notesen
dc.subjectWessex Classification Subject Headings::Oncology. Pathology.::Geneticsen
dc.subjectWessex Classification Subject Headings::Endocrinology::Diabetesen
dc.titleGenotype and phenotype correlations in Iranian patients with hyperinsulinaemic hypoglycaemia.en
dc.typeJournal Articleen
dc.identifier.journalBMC Research Notesen
dc.description.noteThis article is freely available via Open Access. Click on the 'Additional Link' above to access the full text.en
dc.type.versionPublisheden

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