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Maturity-Onset Diabetes of the Young (MODY) in Portugal: Novel GCK, HNFA1 and H...

Alvelos, Maria I.; Gonçalves, Catarina I.; Coutinho, Eduarda; Almeida, Joana T.; Bastos, Margarida; Sampaio, Maria L.; Melo, Miguel; Martins, Sofia

Maturity-onset diabetes of the young (MODY) is a frequently misdiagnosed type of diabetes, which is characterized by early onset, autosomal dominant inheritance, and absence of insulin dependence. The most frequent subtypes are due to mutations of the GCK (MODY 2), HNF1A (MODY 3), and HNF4A (MODY 1) genes. We undertook the first multicenter genetic study of MODY in the Portuguese population. The GCK, HNF1A, and...

Date: 2020   |   Origin: Estudo Geral - Universidade de Coimbra
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