Article
Molecular Characterization of Glucose-6-phosphate Dehydrogenase Deficiency in Families from the Republic of Macedonia and Genotype-phenotype Correlation.
Medical archives (Sarajevo, Bosnia and Herzegovina) - 1 Oct 2015
Cherepnalkovski Anet Papazovska, Zemunik Tatijana, Glamocanin Sofijanka, Piperkova Katica, Gunjaca Ivana, Kocheva Svetlana, Jovanova Biljana Coneska, Krzelj Vjekoslav
Abstract excerpt
INTRODUCTION: Glucose-6-phospahte dehydrogenase deficiency (G6PD) is one of the most common inherited disorders affecting around 400 million people worldwide. Molecular analysis of the G6PD gene identified more than 140 distinct mutations, the majority being single base missense mutations. G6PD Mediterranean is the most common variant found in populations of the Mediterranean area. AIM: The aim of our study was...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
