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

被引：15

作者：

Christensen, Robert D. ^{[1
,2
]}

Yaish, Hassan M. ^{[3
,4
]}

Johnson, Charlotte B. ^{[5
]}

Bianchi, Paola ^{[6
]}

Zanella, Alberto ^{[6
]}

机构：

[1] Intermt Healthcare, Dept Women & Newborns, Salt Lake City, UT USA

[2] McKay Dee Hosp Ctr, Div Neonatol, Ogden, UT USA

[3] Univ Utah, Primary Childrens Med Ctr, Sch Med, Salt Lake City, UT USA

[4] Univ Utah, Sch Med, Dept Pediat, Div Hematol Oncol, Salt Lake City, UT USA

[5] Pediat Clin, Hildale, UT USA

[6] Fdn IRCC Ca Grada Osped Maggiore Policlin, UO Hematol 2, Milan, Italy

来源：

JOURNAL OF PEDIATRICS | 2011年 / 159卷 / 04期

关键词：

HYPERBILIRUBINEMIA; POPULATION; PREVALENCE;

D O I：

10.1016/j.jpeds.2011.05.043

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

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. (J Pediatr 2011;159:695-7)

引用

页码：695 / 697

页数：3

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