title: Six children with pyruvate kinase deficiency from one small town: molecular characterization of the PK-LR gene.
abstract: We identified the pyruvate kinase liver/red cell enzyme gene mutation of 8 children previously diagnosed with pyruvate kinase deficiency who were living in a remote town in the western United States. Six were found to be homozygous for the mutation 1529G-A (510 Arg-Gln). Two previously thought to have pyruvate kinase deficiency did not, because they were heterozygous.
authors.affiliation: Department of Women and Newborns, Intermountain Healthcare, Salt Lake City, UT, USA. rdchris4@ihc.com
authors.forename: Robert D
authors.initials: RD
authors.lastname: Christensen
authors.forename: Hassan M
authors.initials: HM
authors.lastname: Yaish
authors.forename: Charlotte B
authors.initials: CB
authors.lastname: Johnson
authors.forename: Paola
authors.initials: P
authors.lastname: Bianchi
authors.forename: Alberto
authors.initials: A
authors.lastname: Zanella
mesh_terms: D000745:Anemia, Hemolytic, Congenital / Q000209:etiology; D002769:Cholelithiasis / Q000209:etiology; D006580:Genetic Carrier Screening; D034381:Hearing Loss / Q000209:etiology; D006720:Homozygote; D006801:Humans; D006932:Hyperbilirubinemia / Q000209:etiology; D007565:Jaundice / Q000209:etiology; D009154:Mutation; D011770:Pyruvate Kinase / Q000172:deficiency* / Q000235:genetics*; D012424:Rural Population; D014481:United States
chemical_list: D011770:Pyruvate Kinase