Distinct phenotypic expression of two de novo missense mutations affecting the dimer interface of glucose-6-phosphate dehydrogenase

Blood Cells, Molecules, and Diseases

Volumn 32, Issue 1, 2004, Pages 112-117

  Van Wijk, Richard ^a   Huizinga, Eric G ^b   Prins, Ingrid ^c   Kors, Arjenne ^c   Rijksen, Gert ^a   Bierings, Marc ^c   Van Solinge, Wouter W ^a,b  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b UTRECHT UNIVERSITY   (Netherlands)

^c UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

Dimer interface; Glucose 6 phosphate dehydrogenase; Phenotypic expression

Indexed keywords

GLUCOSE 6 PHOSPHATE DEHYDROGENASE; IRON; PROLINE; SERINE;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANAMNESIS; ARTICLE; CASE REPORT; CLINICAL FEATURE; DIMERIZATION; ENZYME ACTIVITY; FAMILY HISTORY; FAVISM; FOLLOW UP; GLUCOSE 6 PHOSPHATE DEHYDROGENASE DEFICIENCY; HEMOLYSIS; HEREDITY; HUMAN; HYPERBILIRUBINEMIA; LABORATORY TEST; MALE; MISSENSE MUTATION; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; VITAMIN SUPPLEMENTATION;

EID: 0742324497     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2003.10.006     Document Type: Article

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