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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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Detalles Bibliográficos
Autores principales: Cherepnalkovski, Anet Papazovska, Zemunik, Tatijana, Glamocanin, Sofijanka, Piperkova, Katica, Gunjaca, Ivana, Kocheva, Svetlana, Jovanova, Biljana Coneska, Krzelj, Vjekoslav
Formato: Online Artículo Texto
Lenguaje:English
Publicado: AVICENA, d.o.o., Sarajevo 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4639331/
https://www.ncbi.nlm.nih.gov/pubmed/26622077
http://dx.doi.org/10.5455/medarh.2015.69.284-288