A novel genetic mutation in a Turkish family with GCK-MODY

Ucakturk, S.; Gunindi, Figen; Ceylaner, Serdar; Mengen, Eda; Elmaogullari, Selin; YÜKSEL, BİLGİN

doi:10.1007/s13410-016-0539-9

A novel genetic mutation in a Turkish family with GCK-MODY

Atıf İçin Kopyala

Ucakturk S. A., Gunindi F., Ceylaner S., Mengen E., Elmaogullari S., YÜKSEL B.

INTERNATIONAL JOURNAL OF DIABETES IN DEVELOPING COUNTRIES, cilt.37, sa.3, ss.323-326, 2017 (SCI-Expanded)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 37 Sayı: 3
Basım Tarihi: 2017
Doi Numarası: 10.1007/s13410-016-0539-9
Dergi Adı: INTERNATIONAL JOURNAL OF DIABETES IN DEVELOPING COUNTRIES
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.323-326
Çukurova Üniversitesi Adresli: Evet

Özet

Glucokinase-maturity-onset diabetes of the young (GCK-MODY) is an autosomal dominantly inherited disease caused by heterozygous inactivating mutations in the glucokinase gene. It usually presents with mild fasting hyperglycemia. Here, we present an obese patient and her family with GCK-MODY caused by a novel heterozygous p.E51*(c.151.G>T) mutation in the GCK gene.