title: Glucose-6-phosphate dehydrogenase Durham: a de novo mutation associated with chronic hemolytic anemia.
abstract: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common X-linked enzyme defect. We report a new variant, G6PD Durham713G, that is associated with chronic nonspherocytic hemolytic anemia. The G6PD Durham713G variant has a unique biochemical and enzymatic profile and a novel A-->G substitution mutation at nucleotide 713, changing lysine to arginine at amino acid 238. This mutation was not found in the mother of our patient, indicating that G6PD Durham713G resulted from a de novo mutation.
authors.affiliation: Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA.
authors.forename: S A
authors.initials: SA
authors.lastname: Zimmerman
authors.forename: R E
authors.initials: RE
authors.lastname: Ware
authors.forename: L
authors.initials: L
authors.lastname: Forman
authors.forename: B
authors.initials: B
authors.lastname: Westwood
authors.forename: E
authors.initials: E
authors.lastname: Beutler
mesh_terms: D000225:Adenine; D000595:Amino Acid Sequence; D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000201:enzymology / Q000235:genetics*; D001120:Arginine / Q000235:genetics; D001483:Base Sequence; D002648:Child; D002908:Chronic Disease; D008040:Genetic Linkage; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D006147:Guanine; D006801:Humans; D008239:Lysine / Q000235:genetics; D008297:Male; D017354:Point Mutation / Q000235:genetics*; D017422:Sequence Analysis, DNA; D014960:X Chromosome / Q000235:genetics
chemical_list: D006147:Guanine; D001120:Arginine; D005954:Glucosephosphate Dehydrogenase; D000225:Adenine; D008239:Lysine