Article
Disruption of a novel regulatory element in the erythroid-specific promoter of the human PKLR gene causes severe pyruvate kinase deficiency.
Blood - 15 Feb 2003
van Wijk Richard, van Solinge Wouter W, Nerlov Claus, Beutler Ernest, Gelbart Terri, Rijksen Gert, Nielsen Finn C
Abstract excerpt
We established the molecular basis for pyruvate kinase (PK) deficiency in a white male patient with severe nonspherocytic hemolytic anemia. The paternal allele exhibited the common PKLR cDNA sequence (c.) 1529G>A mutation, known to be associated with PK deficiency. On the maternal allele, 3 in cis mutations were identified in the erythroid-specific promoter region of the gene: one deletion of thymine -248 and 2...
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