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Disruption of a novel regulatory element in the erythroid-specific promoter of the human PKLR gene causes severe pyruvate kinase deficiency.

Abstract:

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 single nucleotide substitutions, nucleotide (nt) -324T>A and nt -83G>C. A...

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Publisher copy:
10.1182/blood-2002-07-2321

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Institution:
University of Oxford
Division:
MSD
Department:
NDORMS
Sub department:
Lab Sciences
Role:
Author
Journal:
Blood More from this journal
Volume:
101
Issue:
4
Pages:
1596-1602
Publication date:
2003-02-01
DOI:
EISSN:
1528-0020
ISSN:
0006-4971

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