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. 2021 Jul 29;12:684018. doi: 10.3389/fendo.2021.684018

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Copyright © 2021 Moalla, Safi, Babiker Mansour, Hadj Kacem, Mahfood, Abid, Kammoun, Hachicha, Mnif-Feki, Hadj Kacem and Hadj Kacem

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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Mutation analysis of the ABCC8 gene. Panel (A) Pedigree of the family F4 identified with ABCC8 variant [NM_001287174.2: c.2978G>A, p.(Arg993His)]. FPG, fasting plasma glucose; NT, not tested; n.a, Not available. M and N denote mutant and wild-type alleles, respectively. The age of diabetes onset, glycemic control (the latest FPG or HbA1c measurements), complications of diabetes, and treatment follow-up are indicated directly below the genotype. Panel (B) Validation of the ABCC8 c.2978G>A variant segregation by Sanger sequencing. Mutated nucleotide on the chromatographs is depicted with an arrow. Amino acid substitution is indicated in red.