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- W2225563206 abstract "We report two children with severe chronic hemolytic anemia, the cause of which was difficult to establish because of transfusion dependency. Reduced erythrocyte pyruvate kinase activity in their asymptomatic parents provided the diagnostic clues for mutation screening of the PKLR gene and revealed that one child was a compound heterozygote of a novel paternally derived 5-bp deletion in the promoter region (c.-88_-84delTCTCT) and a maternally derived missense mutation in exon nine (c.1174G>A; p.Ala392Thr). The second child was a compound heterozygote of two novel missense mutations, namely a paternally derived exon ten c.1381G>A (p.Glu461Lys) and a maternally derived exon seven c.907-908delCC (p.Pro303GlyfsX12) variant." @default.
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- W2225563206 date "2016-01-05" @default.
- W2225563206 modified "2023-10-09" @default.
- W2225563206 title "Two Novel Missense Mutations and a 5bp Deletion in the Erythroid-Specific Promoter of the<i>PKLR</i>Gene in Two Unrelated Patients With Pyruvate Kinase Deficient Transfusion-Dependent Chronic Nonspherocytic Hemolytic Anemia" @default.
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- W2225563206 doi "https://doi.org/10.1002/pbc.25878" @default.
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