Targeted next generation sequencing in patients with maturity-onset diabetes of the young (MODY)

Ozdemir T. R., Kirbiyik O., DÜNDAR B. N., ABACI A., Kaya O. O., ÇATLI G., ...Daha Fazla

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.31, sa.12, ss.1295-1304, 2018 (SCI-Expanded, Scopus) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 31 Sayı: 12
  • Basım Tarihi: 2018
  • Doi Numarası: 10.1515/jpem-2018-0184
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1295-1304
  • Anahtar Kelimeler: genotype, MODY, next generation sequencing, novel mutation, phenotype
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

Background: Maturity-onset diabetes of the young (MODY) is a common form of monogenic diabetes. Fourteen genes have been identified, each leading to cause a different type of MODY. The aims of this study were to reveal both known and novel variants in MODY genes in patients with MODY using targeted next generation sequencing (NGS) and to present the genotype-phenotype correlations.