Mutational analysis of ten Turkish patients with glycogen storage disease type III: identification of four novel mutations
TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS, cilt.47, sa.4, ss.278-282, 2012 (SCI-Expanded)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 47 Sayı: 4
- Basım Tarihi: 2012
- Doi Numarası: 10.4274/tpa.838
- Dergi Adı: TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.278-282
- Anahtar Kelimeler: AGL gene, glycogen storage disease type III, mutation, DEBRANCHING ENZYME GENE, AGL GENE, HAPLOTYPE ANALYSIS, MOLECULAR ANALYSIS, DEFICIENCY, HETEROGENEITY, VARIABILITY, MYOPATHY, REGION, TURKEY
- Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
- Akdeniz Üniversitesi Adresli: Evet
Özet
Aim: AGL gene mutations are responsible for glycogen storage disease type Ill which is an autosomal recessive disorder. The distribution of these mutations shows a great variance in different populations. The aim of this study is to uncover the AGL gene mutation profile among Turkish patients and to contribute to the establishment of a link between these mutations and the clinical picture of the disease.