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Article

Complete genomic sequence of the human PK-L/R-gene includes four intragenic polymorphisms defining different haplotype backgrounds of normal and mutant PK-genes.

DNA sequence : the journal of DNA sequencing and mapping - 1 Jan 1997

Lenzner C, Nürnberg P, Jacobasch G, Thiele B J

Abstract excerpt

The human pyruvate kinase L/R-gene has been completely sequenced in unrelated normal individuals and in pyruvate kinase-deficient patients by a PCR-based direct genomic sequencing approach and analyzed for polymorphisms. The total length of the gene is 8409 nucleotides. Four polymorphic sites hav...

Topics

Anemia, Hemolytic
Base Sequence
Czech Republic
England
Exons
Genetics, Population
Germany
Haplotypes
Humans
Introns
Molecular Sequence Data
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymorphism, Genetic

Pyruvate Kinase

Sequence Analysis, DNA

Slovakia

Source

Identifiers

PMID: 9522120
DOI: 10.3109/10425179709020884

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9522120-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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