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Large Cohort Screening of G6PD Deficiency and the Mutational Spectrum in the Dongguan District in Southern China

BACKGROUND: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common enzymatic disorder of the erythrocytes that affects 400 million people worldwide. We developed a PCR-reverse dot blot (RDB) assay to screen twenty genotypes of seventeen Chinese G6PD mutations and investigate the spectrum of...

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Detalles Bibliográficos
Autores principales: Peng, Qi, Li, Siping, Ma, Keze, Li, Wenrui, Ma, Qiang, He, Xiaoguang, He, Yuejing, He, Ting, Lu, Xiaomei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4361187/
https://www.ncbi.nlm.nih.gov/pubmed/25775246
http://dx.doi.org/10.1371/journal.pone.0120683