Mutational analysis of ten Turkish patients with glycogen storage disease type III: identification of four novel mutations

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Manguoglu E., Uygun V., Ozkaya F., Luleci G., ARTAN R., Berker S.

TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS, vol.47, no.4, pp.278-282, 2012 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 47 Issue: 4
  • Publication Date: 2012
  • Doi Number: 10.4274/tpa.838
  • Journal Name: TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.278-282
  • Keywords: AGL gene, glycogen storage disease type III, mutation, DEBRANCHING ENZYME GENE, AGL GENE, HAPLOTYPE ANALYSIS, MOLECULAR ANALYSIS, DEFICIENCY, HETEROGENEITY, VARIABILITY, MYOPATHY, REGION, TURKEY
  • Akdeniz University Affiliated: Yes

Abstract

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.