Maturity onset diabetes of youth (MODY) in Turkish children: sequence analysis of 11 causative genes by next generation sequencing
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.29, sa.4, ss.487-496, 2016 (SCI-Expanded, Scopus)
- 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.