HK Utrecht: Missense mutation in the active site of human hexokinase associated with hexokinase deficiency and severe nonspherocytic hemolytic anemia

Blood

Volumn 101, Issue 1, 2003, Pages 345-347

  Van Wijk, Richard ^a,b   Rijksen, Gert ^a,b   Huizinga, Eric G ^a,b   Nieuwenhuis, Hendrik K ^a,b   Van Solinge, Wouter W ^a,b  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b UTRECHT UNIVERSITY   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE DIPHOSPHATE; ADENOSINE TRIPHOSPHATE; GLUCOSE 6 PHOSPHATE; HEXOKINASE; SERINE; THREONINE;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CORRELATION ANALYSIS; DISEASE SEVERITY; ENZYME ACTIVE SITE; ENZYME DEFICIENCY; ENZYME PURIFICATION; GENETIC CODE; GLYCOLYSIS; HEMOLYTIC ANEMIA; HEXOKINASE DEFICIENCY; HOMOZYGOSITY; HUMAN; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PREDICTION; PRIORITY JOURNAL;

EID: 0037218068     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood-2002-06-1851     Document Type: Article

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