Genotyping of ABCC8, KCNJ11, and HADH in Iranian Infants with Congenital Hyperinsulinism.

Somayyeh HashemianReza Jafarzadeh EsfehaniSiroos KarimdadiNosrat GhaemiPeyman EshraghiNajmeh Malekzadeh GonabadiAmir Hossein Sahebkar Rahim Vakili Mohammad Reza Abbaszadegan

Published in: Case reports in endocrinology (2021)

Most variants were located in the ABCC8 gene in our population. Because most of the variants in our population are not previously reported, performing further functional studies is warranted.

Keyphrases

copy number
genome wide
high throughput
dna methylation
transcription factor
genetic diversity