| dc.creator |
Cetinkaya, Ergun |
|
| dc.creator |
Buyukgebiz, Atilla |
|
| dc.creator |
ARMAN, AHMET |
|
| dc.creator |
ŞIKLAR, ZEYNEP |
|
| dc.creator |
ÇOKER, AJDA |
|
| dc.creator |
Dundar, Bumin |
|
| dc.date |
2009-10-01T00:00:00Z |
|
| dc.date.accessioned |
2021-12-03T11:54:21Z |
|
| dc.date.available |
2021-12-03T11:54:21Z |
|
| dc.identifier |
bbb27232-4600-4239-b156-0a43decba415 |
|
| dc.identifier |
10.1515/jpem.2009.22.10.937 |
|
| dc.identifier |
https://avesis.sdu.edu.tr/publication/details/bbb27232-4600-4239-b156-0a43decba415/oai |
|
| dc.identifier.uri |
http://acikerisim.sdu.edu.tr/xmlui/handle/123456789/94559 |
|
| dc.description |
Isolated 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. |
|
| dc.language |
eng |
|
| dc.rights |
info:eu-repo/semantics/closedAccess |
|
| dc.title |
Characterization of GH-1 Mutations in Children with Isolated Growth Hormone Deficiency in the Turkish Population |
|
| dc.type |
info:eu-repo/semantics/article |
|