Associated Papers
The contribution of common and rare genetic variants to variation in metabolic traits in 288,137 East Asians.
Kim YJ et al.
Nature Communications, 2022
[Identification and characterization of PKLR gene mutation in two patients with erythrocyte pyruvate kinase deficiency].
Huang ZD et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2017
Molecular characterisation of pyruvate kinase deficiency--concerns about the description of mutant PKLR alleles.
van Wijk R et al.
British Journal of Haematology, 2007
Pyruvate kinase deficiency in France: a 3-year study reveals 27 new mutations.
Pissard S et al.
British Journal of Haematology, 2006
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