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Distribution of PKLR mutations associated with PK deficiency

Distribution of PKLR mutations associated with PK deficiency
This is a schematic representation of the PKLR gene with mutation sites indicated. Exons are numbered in the gray boxes. Nucleotides are numbered below the gray boxes, starting from the ATG start codon in the RBC-specific first exon(R = RBC; L = liver). The key underneath the gene schematic shows the types of mutations; the majority (approximately 69 percent) of reported mutations are missense mutations (changes that result in substitution of a different amino acid). Refer to UpToDate for further discussions.
PKLR: pyruvate kinase, liver and red blood cell isoform; PK: pyruvate kinase; RBC: red blood cell.
Reproduced from: Zanella A, Fermo E, Bianchi P, et al. Pyruvate kinase deficiency: The genotype-phenotype association. Blood Rev 2007; 21:217. Illustration used with the permission of Elsevier Inc. All rights reserved.
Graphic 116698 Version 1.0

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