Gene Symbol: ABCC8
OMIM: 600509Chromosome location: 11p15.1
Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD | Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Turkey | NA | NA | 5 patients/35 patients | NA | Demirbilek H et al., 2014Demirbilek H, Arya VB, Ozbek MN, Akinci A, Dogan M, Demirel F, Houghton J, Kaba S, Guzel F, Baran RT, Unal S, Tekkes S, Flanagan SE, Ellard S, Hussain K, . Clinical characteristics and phenotype-genotype analysis in Turkish patients with congenital hyperinsulinism; predominance of recessive KATP channel mutations.. Eur. J. Endocrinol.. 2014; 0(0): |
References
Demirbilek H, Arya VB, Ozbek MN, Akinci A, Dogan M, Demirel F, Houghton J, Kaba S, Guzel F, Baran RT, Unal S, Tekkes S, Flanagan SE, Ellard S, Hussain K, Clinical characteristics and phenotype-genotype analysis in Turkish patients with congenital hyperinsulinism; predominance of recessive KATP channel mutations.Eur. J. Endocrinol.. 2014; 0(0):
Fernández-Marmiesse A, Salas A, Vega A, Fernández-Lorenzo JR, Barreiro J, Carracedo A, Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI).Hum. Mutat.. 2006; 27(2):214