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Article

Gene symbol: PKLR. Disease: Pyruvate kinase deficiency.

Human genetics - 1 Oct 2008

Manco Licínio, Relvas Luís, Rebelo Umbelina, Vidán Julia, Ribeiro M Letícia

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Identifiers

PMID: 18846674

Genes

PKLR

Provenance

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Related research

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Research trail→

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Gene symbol: PKLR. Disease: Pyruvate kinase deficiency.PMID 18846674Read ↗

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Clinical outcome and genotype analysis of 4 Chinese children with pyruvate kinase deficiencySemantic proximity Read ↗

Six previously undescribed pyruvate kinase mutations causing enzyme deficiency.Semantic proximity Read ↗

A novel homozygous missense variant p.D339N in the PKLR gene correlates with pyruvate kinase deficiency in a Pakistani family: a case report.Semantic proximity Read ↗

A novel mutation causing pyruvate kinase deficiency responsible for a severe neonatal respiratory distress syndrome and jaundice.Semantic proximity Read ↗

[From gene to disease; hereditary non-spherocytic hemolytic anemia caused by pyruvate kinase deficiency].Semantic proximity Read ↗

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