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dc.contributor.authorÇoker, Ajda
dc.contributor.authorÇetinkaya, Ergun
dc.contributor.authorDündar, Bumin
dc.contributor.authorŞıklar, Zeynep
dc.contributor.authorBüyükgebiz, Atilla
dc.contributor.authorArman, Ahmet
dc.date.accessioned2016-04-27T13:48:34Z
dc.date.available2016-04-27T13:48:34Z
dc.date.issued2009-10
dc.identifier.issn0334-018X
dc.identifier.urihttp://hdl.handle.net/11413/1228
dc.description.abstractIsolated growth hormone deficiency (IGHD) is defined as a medical condition associated with growth failure due to insufficient production of growth hormone (GH) or lack of growth hormone action. It occurs with an incidence of between 1/4,000 and 1/10,000 live births. Most cases are sporadic and idiopathic but 5-30% of growth hormone deficiency (GHD) has genetic etiology. Mutations in the GH encoding gene (GH-1) have been detected in patients with IGHD. The purpose of this study was to characterize mutations of the GH-1 gene in children with IGHD in the Turkish population. We found four missense mutations (E33G, N47D, T-24A and A13S), one nonsense mutation (W-7X), one insertion and two deletions in nine patients out of seventy-five patients with IGHD. The missense mutation A13S, GAAA insertion at intron 1 (+178A), and the deletions of +83C in intron I and Delta F166 in exon 5 are novel mutations.tr_TR
dc.language.isoen_UStr_TR
dc.publisherFREUND PUBLISHING HOUSE LTD, PO BOX 35010, TEL AVIV 61350, ISRAELtr_TR
dc.relationJOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISMtr_TR
dc.subjectisolated growth hormone deficiencytr_TR
dc.subjectGH-1 genetr_TR
dc.subjectmutation analysistr_TR
dc.subjectgene deletionstr_TR
dc.subjectshort staturetr_TR
dc.subjectprevalencetr_TR
dc.subjectsecretiontr_TR
dc.subjectdefectstr_TR
dc.subjectizole büyüme hormonu eksikliğitr_TR
dc.subjectmutasyon analizitr_TR
dc.subjectgen silmelertr_TR
dc.subjectboy kısalığıtr_TR
dc.subjectyaygınlıktr_TR
dc.subjectsalgıtr_TR
dc.subjectkusurlartr_TR
dc.titleCharacterization of GH-1 Mutations in Children with Isolated Growth Hormone Deficiency in the Turkish Populationtr_TR
dc.typeArticletr_TR
dc.contributor.authorIDTR125860tr_TR
dc.contributor.authorIDTR1603tr_TR
dc.contributor.authorIDTR173248tr_TR
dc.identifier.wos272151000010
dc.identifier.wos272151000010en
dc.identifier.scopus2-s2.0-71049151188
dc.identifier.scopus2-s2.0-71049151188en
dc.identifier.pubmed20020582
dc.identifier.pubmed20020582en


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