The spectrum of HNF1A gene mutations in patients with MODY 3 phenotype and identification of three novel germline mutations in Turkish Population


KARACA E. , ONAY H. , ÇETİNKALP Ş. , AYKUT A. , Goksen D. , ÖZEN S. , ...Daha Fazla

DIABETES & METABOLIC SYNDROME-CLINICAL RESEARCH & REVIEWS, cilt.11, 2017 (ESCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 11
  • Basım Tarihi: 2017
  • Doi Numarası: 10.1016/j.dsx.2017.03.042
  • Dergi Adı: DIABETES & METABOLIC SYNDROME-CLINICAL RESEARCH & REVIEWS

Özet

Background: Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes mellitus characterized by autosomal dominant inheritance, early age of onset, and pancreatic beta cell dysfunction. Heterozygous mutations in several genes may cause MODY.