Glucose-6-phosphate dehydrogenase Buenos Aires: A novel de novo missense mutation associated with severe enzyme deficiency

Clinical Biochemistry

Volumn 41, Issue 9, 2008, Pages 742-745

  Minucci, Angelo ^a   Concolino, Paola ^a   Vendittelli, Francesca ^a   Giardina, Bruno ^a   Zuppi, Cecilia ^a   Capoluongo, Ettore ^a  

^a CATHOLIC UNIVERSITY   (Italy)

Author keywords

g1465C>T; G6PD novel mutation; P489S

Indexed keywords

GLUCOSE 6 PHOSPHATE DEHYDROGENASE; NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; EMBRYO DEVELOPMENT; ENZYME STABILITY; EXON; GENE MUTATION; GLUCOSE 6 PHOSPHATE DEHYDROGENASE DEFICIENCY; HUMAN; MALE; MISSENSE MUTATION; MOSAICISM; NEWBORN; OXIDATIVE STRESS; PENTOSE PHOSPHATE CYCLE; PRIORITY JOURNAL;

BASE SEQUENCE; FEMALE; GLUCOSEPHOSPHATE DEHYDROGENASE; GLUCOSEPHOSPHATE DEHYDROGENASE DEFICIENCY; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; SEVERITY OF ILLNESS INDEX; VARIATION (GENETICS);

EID: 43449133253     PISSN: 00099120     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.clinbiochem.2007.11.009     Document Type: Article

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