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

Two novel mutations involved in hereditary tyrosinemia type I.

Human molecular genetics - 1 Feb 1995

St-Louis M, Poudrier J, Phaneuf D, Leclerc B, Laframboise R, Tanguay R M

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Metabolism, Inborn Errors
Share to Blotting, Western
Share to Canada
Share to Hydrolases

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

Share to Norway

Share to Peptides

Share to Tyrosine

Source

Identifiers

PMID: 7757089
DOI: 10.1093/hmg/4.2.319

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

Two novel mutations involved in hereditary tyrosinemia type I.PMID 7757089Read ↗

[Hereditary tyrosinemia type I].Semantic proximity Read ↗

[Hereditary tyrosinemia type II].Semantic proximity Read ↗

Mutation spectrum of Tyrosinemia type I in Iran, A retrospective cohort study.Semantic proximity Read ↗

Two novel FAH gene mutations in a patient with hereditary tyrosinemia type I.Semantic proximity Read ↗

Novel human pathological mutations.Semantic proximity Read ↗

Six novel mutations in the fumarylacetoacetate hydrolase gene of patients with hereditary tyrosinemia type I.Semantic proximity Read ↗

Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase.Semantic proximity Read ↗

Identification of two new mutations in the TAT gene in a Danish family with tyrosinaemia type II.Semantic proximity Read ↗

Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern origin.Semantic proximity Read ↗

"Been hit twice": a novel bi-allelic heterozygous mutation in LHCGR.Semantic proximity Read ↗

Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation.Semantic proximity Read ↗

Novel human pathological mutations. Gene symbol: TPI1. Disease: triosephosphate isomerase deficiency.Semantic proximity Read ↗

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