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

Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries.

Human mutation - 1 Jan 1998

Bergman A J, van den Berg I E, Brink W, Poll-The B T, Ploos van Amstel J K, Berger R

Abstract excerpt

Hereditary tyrosinemia type 1 (HT1) is a rare metabolic disease caused by a deficient activity of the enzyme fumarylacetoacetase (FAH). To investigate the molecular heterogeneity of tyrosinemia, the geographic distribution and the genotype-phenotype relationship, we have analyzed the FAH genotype of 25 HT1 patients. Mutation screening was performed by PCR amplification of exons 1-14 of the FAH gene, followed by...

Read the complete abstract on PubMed

Topics

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

Share to Base Sequence
Share to DNA

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Europe

Share to Heterozygote

Share to Homozygote

Share to Mutation

Share to Polymorphism, Single-Stranded Conformational

Share to Tyrosine

Source

Identifiers

PMID: 9633815
DOI: 10.1002/(SICI)1098-1004(1998)12:1<19::AID-HUMU3>3.0.CO;2-3

Genes

FAH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries.PMID 9633815Read ↗

Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: overview.Semantic proximity Read ↗

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

Molecular Aspects of the FAH Mutations Involved in HT1 Disease.Semantic proximity Read ↗

Splicing mutations, mainly IVS6-1(G>T), account for 70% of fumarylacetoacetate hydrolase (FAH) gene alterations, including 7 novel mutations, in a survey of 29 tyrosinemia type I patients.Semantic proximity Read ↗

Hereditary tyrosinemia type 1: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship.Semantic proximity Read ↗

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

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

Identification of the Mutations Spectrum in the Fumarylacetoacetate Hydrolase Gene in Tyrosinemia Type 1 Patients in Northeastern Iran.Semantic proximity Read ↗

Fumarylacetoacetase mutations in tyrosinaemia type I.Semantic proximity Read ↗

Direct sequencing of FAH gene in Pakistani tyrosinemia type 1 families reveals a novel mutation.Semantic proximity Read ↗

Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity.Semantic proximity Read ↗

Structural organization and analysis of the human fumarylacetoacetate hydrolase gene in tyrosinemia type I.Semantic proximity Read ↗

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