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Browsing Dahili Tıp Bilimleri / Internal Medıcal Scıences by Author "Jayne Houghton"

Browsing Dahili Tıp Bilimleri / Internal Medıcal Scıences by Author "Jayne Houghton"

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  • Permanent neonatal diabetes mellitus caused by a novel mutation in the KCNJ11 gene 
    Hakan Doneray; Jayne Houghton; Kadir Serafettin Tekgunduz; Ferat Balkir; Caner, İbrahim (WALTER DE GRUYTER GMBH, 2014)
    Mutations in the KCNJ11 gene are responsible for the majority of permanent neonatal diabetes mellitus (PNDM) cases. Some mutations in this gene, including p.Q52R, are associated with the developmental delay, epilepsy, ...