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Article

Identification of a genetic mutation in a family with fructose-1,6- bisphosphatase deficiency.

Biochemical and biophysical research communications - 25 May 1995

Kikawa Y, Inuzuka M, Jin B Y, Kaji S, Yamamoto Y, Shigematsu Y, Nakai A, Taketo A, Ohura T, Mikami H

Abstract excerpt

Fructose-1,6-bisphosphatase deficiency is an inheritable disorder of gluconeogenesis. Sequence analysis of the cDNA of the fructose-1,6-bisphosphatase mRNA isolated from monocytes from a girl with this disease and her consanguineous parents revealed that the patient and her parents were a homozygote and heterozygotes for an insertion of one G residue at G957GGGG961, respectively. This mutation resulted in...

Topics

Amino Acid Sequence
Base Sequence
Child
Consanguinity
DNA Primers
Female
Fructose-1,6-Diphosphatase Deficiency
Fructose-Bisphosphatase
Genetic Carrier Screening
Homozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Male

Molecular Sequence Data

Mutagenesis, Site-Directed

Mutation

Nuclear Family

Polymerase Chain Reaction

RNA, Messenger

Source

Identifiers

PMID: 7763253
DOI: 10.1006/bbrc.1995.1729

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7763253-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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