Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Primary hyperoxaluria type I due to a point mutation of T to C in the coding region of the serine:pyruvate aminotransferase gene.

Biochemical and biophysical research communications - 15 May 1991

Nishiyama K, Funai T, Katafuchi R, Hattori F, Onoyama K, Ichiyama A

Abstract excerpt

cDNA clones for serine:pyruvate aminotransferase (SPT, alternative name: alanine:glyoxylate aminotransferase) were obtained from a cDNA library constructed from the liver of a primary hyperoxaluria type I (PH1) case in which the SPT activity was approximately one-hundredth that in control liver. Six clones were isolated from 100,000 transformants and all of them contained an approximately 1.5 kbp insert which...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Aged
Share to Amino Acid Sequence

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Base Sequence

Share to Cloning, Molecular

Share to Molecular Sequence Data

Share to Mutation

Source

Identifiers

PMID: 2039493
DOI: 10.1016/0006-291x(91)90396-o

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Primary hyperoxaluria type I due to a point mutation of T to C in the coding region of the serine:pyruvate aminotransferase gene.PMID 2039493Read ↗

Molecular insights into primary hyperoxaluria Type I pathogenesisSemantic proximity Read ↗

The major allele of the alanine:glyoxylate aminotransferase gene: nine novel mutations and polymorphisms associated with primary hyperoxaluria type 1.Semantic proximity Read ↗

Primary hyperoxalurias: diagnosis and treatment.Semantic proximity Read ↗

Mutation-based diagnostic testing for primary hyperoxaluria type 1: survey of results.Semantic proximity Read ↗

A glycine-to-glutamate substitution abolishes alanine:glyoxylate aminotransferase catalytic activity in a subset of patients with primary hyperoxaluria type 1.Semantic proximity Read ↗

Primary hyperoxaluria type 1: genotypic and phenotypic heterogeneity.Semantic proximity Read ↗

[Molecular pathology of type 1 primary hyperoxaluria].Semantic proximity Read ↗

Energy-dependent degradation of a mutant serine: pyruvate/alanin: glyoxylate aminotransferase in a primary hyperoxaluria type 1 case.Semantic proximity Read ↗

Novel mutations of the AGXT gene causing primary hyperoxaluria type 1.Semantic proximity Read ↗

Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene.Semantic proximity Read ↗

Primary hyperoxaluria type 1: diagnostic relevance of mutations and polymorphisms in the alanine:glyoxylate aminotransferase gene (AGXT).Semantic proximity Read ↗

Liver peroxisomal alanine:glyoxylate aminotransferase and the effects of mutations associated with Primary Hyperoxaluria Type I: An overview.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.