Molecular Characterization of Glucose-6-phosphate Dehydrogenase Deficiency in Families from the Republic of Macedonia and Genotype-phenotype Correlation

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 Medi...

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Опубликовано в: :Med Arch
Главные авторы: Cherepnalkovski, Anet Papazovska, Zemunik, Tatijana, Glamocanin, Sofijanka, Piperkova, Katica, Gunjaca, Ivana, Kocheva, Svetlana, Jovanova, Biljana Coneska, Krzelj, Vjekoslav
Формат: Artigo
Язык:Inglês
Опубликовано: AVICENA, d.o.o., Sarajevo 2015
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Original Paper
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC4639331/
https://ncbi.nlm.nih.gov/pubmed/26622077
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5455/medarh.2015.69.284-288
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