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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Vydáno v:Med Arch
Hlavní autoři: Cherepnalkovski, Anet Papazovska, Zemunik, Tatijana, Glamocanin, Sofijanka, Piperkova, Katica, Gunjaca, Ivana, Kocheva, Svetlana, Jovanova, Biljana Coneska, Krzelj, Vjekoslav
Médium: Artigo
Jazyk:Inglês
Vydáno: AVICENA, d.o.o., Sarajevo 2015
Témata:
Original Paper
On-line přístup: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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