Article
Molecular diagnosis of maturity-onset diabetes of the young (MODY) in Turkish children by using targeted next-generation sequencing.
Journal of pediatric endocrinology & metabolism : JPEM - 1 Nov 2015
Anık Ahmet, Çatlı Gönül, Abacı Ayhan, Sarı Erkan, Yeşilkaya Ediz, Korkmaz Hüseyin Anıl, Demir Korcan, Altıncık Ayça, Tuhan Hale Ünver, Kızıldağ Sefa, Özkan Behzat, Ceylaner Serdar, Böber Ece
Abstract excerpt
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. METHODS: Forty-two children diagnosed with MODY and their parents were...
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