A new PKLR gene mutation in the R‐type promoter region affects the gene transcription causing pyruvate kinase deficiency

Abstract excerpt

Mutations in the PKLR gene responsible for pyruvate kinase (PK)-deficient anaemia are mainly located in the coding regions: 11 are in the splicing sites and, recently, three mutations have been described in the promoter region. We now report a novel point mutation A-->G on nucleotide 72, upstream from the initiation codon of the PKLR gene, in four Portuguese PK-deficient patients. This new regulatory mutation...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Blood disorders and treatments
• Share to Erythrocyte Function and Pathophysiology
• Share to RNA modifications and cancer