Clinical, genetic, and biochemical features of G-6PD(West Virginia).
A new mutation of the G-6PD gene at position 910 is described. Biochemical analysis suggests that a conformational change results in the enzymatic deficiency associated with G-6PD(West Virginia).
Corey
S J
SJ
Division of Hematology-Oncology, Children's Hospital of Pittsburgh, Pennsylvania, USA.
Beutler
E
E
D000743:Anemia, Hemolytic / Q000201:enzymology* / Q000235:genetics; D005954:Glucosephosphate Dehydrogenase / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation
D005954:Glucosephosphate Dehydrogenase