Molecular characterization of the PK-LR gene in sixteen pyruvate kinase-deficient patients.

@article{Zanella2001MolecularCO,
  title={Molecular characterization of the PK-LR gene in sixteen pyruvate kinase-deficient patients.},
  author={Alberto Zanella and Paola Bianchi and Elisa Fermo and Alessandra Iurlo and M E Zappa and Cristina Vercellati and Carla Boschetti and Luciano Baronciani and Frederic J Cotton},
  journal={British journal of haematology},
  year={2001},
  volume={113 1},
  pages={43-8}
}
We studied the PK-LR gene in 16 unrelated patients with congenital haemolytic anaemia associated with erythrocyte pyruvate kinase deficiency. Fifteen different mutations were detected among the 28 mutated alleles identified: two deletions (del 1010G, del 1042--1044); one four nucleotide duplication (nt 1515--1518, GGTC); one splice site [IVS6(-2)t]; nine missense (991A, 1003A, 1151T, 1160G, 1181T, 1181A, 1456T, 1483A, 1529A); and two nonsense (721T, 1675T) mutations. Eight of them [del 1010G… CONTINUE READING
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