A novel homozygous missense variant p.D339N in the PKLR gene correlates with pyruvate kinase deficiency in a Pakistani family: a case report
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DOI: 10.1186/s13256-022-03292-z
Abstract: Pyruvate kinase deficiency is an exceptionally rare autosomal recessive Mendelian disorder caused by bi-allelic pathogenic variants in the PKLR gene. It is mainly characterized by chronic nonspherocytic hemolytic anemia though other symptoms such as splenomegaly,… read more here.
Keywords: kinase; kinase deficiency; pklr gene; pyruvate kinase ... See more keywords