Multiplex primer extension reaction screening and oxidative challenge of glucose-6-phosphate dehydrogenase mutants in hemizygous and heterozygous subjects

Blood Cells, Molecules, and Diseases

Volumn 37, Issue 1, 2006, Pages 21-26

  Ko, Chun Hay ^a   Yung, Edmund ^b   Li, Karen ^b   Li, Chung Leung ^c   Ng, Pak Cheung ^b   Fung, Kwok Pui ^a   Wong, Raymond Pui On ^b   Chui, Kit Man ^b   Gu, Goldie Jia Shi ^b   Fok, Tai Fai ^b  

^a CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

^b CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

^c INSTITUTE OF CELLULAR AND ORGANISMIC BIOLOGY   (Taiwan)

Author keywords

Chinese population; Erythrocytes; Glucose 6 phosphate dehydrogenase deficiency; Multiplex primer extension reaction; Mutation screening

Indexed keywords

1 NAPHTHOL; GLUCOSE 6 PHOSPHATE DEHYDROGENASE; GLUTATHIONE; MUTANT PROTEIN;

ARTICLE; CHINESE; CONTROLLED STUDY; ENZYME DEFICIENCY; ENZYME METABOLISM; FEMALE; GENE MUTATION; GENETIC DISORDER; GENETIC VARIABILITY; GLYCOGEN STORAGE DISEASE TYPE 1; HETEROZYGOTE; HUMAN; INCIDENCE; INFANT; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; OXIDATION REDUCTION POTENTIAL; PHARMACOGENETICS; PRIORITY JOURNAL; REACTION ANALYSIS; SCREENING;

CHINA; EPIDEMIOLOGY, MOLECULAR; GENETIC SCREENING; GENOTYPE; GLUCOSEPHOSPHATE DEHYDROGENASE; GLUCOSEPHOSPHATE DEHYDROGENASE DEFICIENCY; GLUTATHIONE; HUMANS; INCIDENCE; MUTATION; NAPHTHOLS; NUCLEIC ACID AMPLIFICATION TECHNIQUES; OXIDATION-REDUCTION;

EID: 33745961569     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2006.04.007     Document Type: Article

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