Description of a novel missense mutation of glucose-6-phosphate dehydrogenase gene associated with asymptomatic high enzyme deficiency

Clinical Biochemistry

Volumn 40, Issue 12, 2007, Pages 856-858

  Minucci, Angelo ^a   Concolino, Paola ^a   Antenucci, Mirca ^a   Santonocito, Concetta ^a   Ameglio, Franco ^a   Zuppi, Cecilia ^a   Giardina, Bruno ^a   Capoluongo, Ettore ^a  

^a CATHOLIC UNIVERSITY   (Italy)

Author keywords

Ala44Thr; Favism; G130A mutation; G6PD Rignano

Indexed keywords

GLUCOSE 6 PHOSPHATE DEHYDROGENASE;

ADULT; ARTICLE; CASE REPORT; DISEASE SEVERITY; ENZYME ACTIVITY; ENZYME MECHANISM; EXON; GENE; GENE MUTATION; GENETIC VARIABILITY; GLUCOSE 6 PHOSPHATE DEHYDROGENASE DEFICIENCY; GLUCOSE 6 PHOSPHATE DEHYDROGENASE GENE; HUMAN; MALE; MISSENSE MUTATION; PRIORITY JOURNAL;

ADULT; BASE SEQUENCE; CASE-CONTROL STUDIES; DNA MUTATIONAL ANALYSIS; GLUCOSEPHOSPHATE DEHYDROGENASE; GLUCOSEPHOSPHATE DEHYDROGENASE DEFICIENCY; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE;

EID: 34447521703     PISSN: 00099120     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.clinbiochem.2007.03.025     Document Type: Article

References (8)

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