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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Detalhes bibliográficos
Publicado no:Med Arch
Main Authors: Cherepnalkovski, Anet Papazovska, Zemunik, Tatijana, Glamocanin, Sofijanka, Piperkova, Katica, Gunjaca, Ivana, Kocheva, Svetlana, Jovanova, Biljana Coneska, Krzelj, Vjekoslav
Formato: Artigo
Idioma:Inglês
Publicado em: AVICENA, d.o.o., Sarajevo 2015
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Original Paper
Acesso em linha: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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