Article
Study of the molecular defects in pyruvate kinase deficient patients affected by nonspherocytic hemolytic anemia.
Blood cells, molecules & diseases - 1 Jan 1995
Baronciani L, Magalhães I Q, Mahoney D H, Westwood B, Adekile A D, Lappin T R, Beutler E
Abstract excerpt
We have examined DNA from fifteen unrelated pyruvate kinase deficient patients with hereditary nonspherocytic hemolytic anemia (HNSHA) for the molecular alterations responsible for the enzyme deficiency. All but 3 of the 30 putative mutations were identified. Fourteen different mutations were found. Nine were missense mutations: 320 T-->C, 823 G-->C, 1276 C-->T, 1378 G-->A, 1484 C-->T, 1529 G-->A, 1654 G-->A,...
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