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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 HNF1A gene. Panel (A) Pedigree of the family F3 identified with HNF1A variant (NM_000545.8: c.293C>T, p.Ala98Val). OHA, oral hypoglycemic agents; NT, not tested; n.a, Not available. M and N denote mutant and wild-type alleles, respectively. The age of diabetes onset, treatment follow-up, and last HbA1c measurement are indicated directly below the genotype (were available). Panel (B) Electropherograms showing co-segregation of the heterozygous variant c.293C>T in HNF1A gene to the phenotype observed in the proband and his father. Proband III.1 and his father II.10 carry heterozygous alleles (C/T) linked to the phenotype whereas non-affected subjects (mother II.9 and siblings III.2, III.3) carry homozygous alleles (C/C). Mutated nucleotide on the chromatographs is depicted with an arrow. Amino acid substitution is indicated in red.