Maturity onset diabetes of youth (MODY) in Turkish children: sequence analysis of 11 causative genes by next generation sequencing

Agladioglu S. Y., AYCAN Z., Cetinkaya S., Bas V. N., Onder A., Kendirci H. N. P., ...Daha Fazla

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.29, sa.4, ss.487-496, 2016 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 29 Sayı: 4
  • Basım Tarihi: 2016
  • Doi Numarası: 10.1515/jpem-2015-0039
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.487-496
  • Anahtar Kelimeler: children, maturity onset diabetes of youth (MODY), next generation sequencing, HEPATOCYTE NUCLEAR FACTOR-1-ALPHA, YOUNG MODY, MUTATIONS, TYPE-2, DIAGNOSIS, DIFFERENTIATION, HETEROGENEITY, FAMILIES, MELLITUS, ACID
  • Ankara Üniversitesi Adresli: Hayır

Özet

Background: Maturity-onset diabetes of the youth (MODY), is a genetically and clinically heterogeneous group of diseasesand is often misdiagnosed as type 1 or type 2 diabetes. The aim of this study is to investigate both novel and proven mutations of 11 MODY genes in Turkish children by using targeted next generation sequencing.