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...

詳細記述

保存先:
書誌詳細
出版年:Med Arch
主要な著者: Cherepnalkovski, Anet Papazovska, Zemunik, Tatijana, Glamocanin, Sofijanka, Piperkova, Katica, Gunjaca, Ivana, Kocheva, Svetlana, Jovanova, Biljana Coneska, Krzelj, Vjekoslav
フォーマット: Artigo
言語:Inglês
出版事項: AVICENA, d.o.o., Sarajevo 2015
主題:
Original Paper
オンライン･アクセス: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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