Article
PK-LR gene mutations in pyruvate kinase deficient Portuguese patients.
British journal of haematology - 1 Jun 1999
Manco L, Ribeiro M L, Almeida H, Freitas O, Abade A, Tamagnini G
Abstract excerpt
In nine unrelated Portuguese patients with pyruvate kinase (PK) deficient anaemia, whose symptoms ranged from a mild chronic haemolytic anaemia to a severe anaemia presenting at birth and requiring multiple transfusions, the PK-LR gene mutations were identified and correlated with their phenotypes. Five different mutations were identified, three of them for the first time: a missense mutation 1670G --> C on exon...
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