A new variant of muscle phosphofructokinase deficiency in a Japanese case with abnormal RNA splicing.

doi:10.1006/bbrc.1994.1948

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Article

A new variant of muscle phosphofructokinase deficiency in a Japanese case with abnormal RNA splicing.

Biochemical and biophysical research communications - 15 Jul 1994

Hamaguchi T, Nakajima H, Noguchi T, Ono A, Kono N, Tarui S, Kuwajima M, Matsuzawa Y

Abstract excerpt

A genetic defect was investigated in a newly diagnosed Japanese case with muscle type phosphofructokinase (PFK-M) deficiency. Polymerase chain reaction (PCR) amplification of patient cDNA revealed an in-frame truncation of 165 bases. This was compatible to the complete deletion of exon 19. The rest of the sequence was identical to that of the normal PFK-M cDNA. Sequencing of PCR amplified genomic DNA of the...

Topics

Adult
Base Sequence
DNA
DNA Primers
Exons
Female
Genetic Variation
Humans
Japan
Leukocytes
Molecular Sequence Data
Oligonucleotides, Antisense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Phosphofructokinase-1

Point Mutation

Polymerase Chain Reaction

RNA

RNA Splicing

Sequence Deletion

Source

Open in PubMed

Identifiers

PMID: 7518679
DOI: 10.1006/bbrc.1994.1948

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7518679-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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