Molecular diagnosis of maturity-onset diabetes of the young (MODY) in Turkish children by using targeted next-generation sequencing


Anik A., Catli G., ABACI A., Sari E., Yesilkaya E., Korkmaz H. A., ...Daha Fazla

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.28, ss.1265-1271, 2015 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 28
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1515/jpem-2014-0430
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1265-1271
  • Anahtar Kelimeler: childhood, MODY, next-generation sequencing, CLINICAL CHARACTERISTICS, GLUCOKINASE MUTATIONS, GENE, MELLITUS, GCK, ADOLESCENTS, HNF-1-ALPHA, TYPE-2, HNF1A, HYPERGLYCEMIA
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

Aim: To perform molecular analysis of pediatric maturity onset diabetes of the young (MODY) patients by next-generation sequencing, which enables simultaneous analysis of multiple genes in a single test, to determine the genetic etiology of a group of Turkish children clinically diagnosed as MODY, and to assess genotype-phenotype relationship.