Six Children with Pyruvate Kinase Deficiency from One Small Town: Molecular Characterization of the PK-LR Gene

详细信息    查看全文

• 作者：Robert D. Christensen ; MD^a ; ^b ; ^{rdchris4@ihc.com} ; Hassan M. Yaish ; MD^c ; Charlotte B. Johnson ; MS ; PNP-C^d ; Paola Bianchi ; PhD^e ; Alberto Zanella ; MD^e
• 关键词：PK ; Pyruvate kinase ; PK-LR ; Pyruvate kinase liver/red cell
• 刊名：The Journal of Pediatrics
• 出版年：2011
• 出版时间：October, 2011
• 年：2011
• 卷：159
• 期：4
• 页码：695-697
• 全文大小：99 K

文摘

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.