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Hum Genet. 2009 Apr;125(3):340.

Novel human pathological mutations. Gene symbol: PKLR. Disease: pyruvate kinase deficiency.

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Universidade de Coimbra, Departamento de Antropologia, Coimbra, Portugal. lmanco@antrop.uc.pt
PMID:
19309805
[Indexed for MEDLINE]
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