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

Fucosidosis: genetic and biochemical analysis of eight cases.

Journal of medical genetics - 1 Feb 1997

Cragg H, Williamson M, Young E, O'Brien J, Alhadeff J, Fang-Kircher S, Paschke E, Winchester B

Abstract excerpt

The molecular basis of the deficiency of alpha-L-fucosidase has been investigated in eight patients who had been diagnosed clinically and enzymatically as suffering from the autosomal recessive lysosomal storage disease fucosidosis. None of the patients had a deletion or gross alteration of the alpha-L-fucosidase gene (FUCA1). Single strand conformation polymorphism (SSCP) analysis followed by direct sequencing...

Read the complete abstract on PubMed

Topics

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

Share to Blotting, Southern
Share to Child
Share to Child, Preschool

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

Share to DNA Mutational Analysis

Share to Infant

Share to Mutation

Share to Polymerase Chain Reaction

Share to Sequence Analysis, DNA

Source

Open in PubMed Open full text

Identifiers

PMID: 9039984
DOI: 10.1136/jmg.34.2.105
PMCID: PMC1050861

Genes

FUCA1

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

Fucosidosis: genetic and biochemical analysis of eight cases.PMID 9039984Read ↗

Spectrum of mutations in fucosidosis.Semantic proximity Read ↗

Identification of a novel homozygous loss-of-function mutation in FUCA1 gene causing severe fucosidosis: A case report.Semantic proximity Read ↗

Pedigree analysis of alpha-L-fucosidase gene mutations in a fucosidosis family.Semantic proximity Read ↗

Fucosidosis—Clinical Manifestation, Long-Term Outcomes, and Genetic Profile—Review and Case SeriesSemantic proximity Read ↗

A novel homozygous frameshift mutation in the FUCA1 gene causes both severe and mild fucosidosis.Semantic proximity Read ↗

Mutation identification and characterization of a Taiwanese patient with fucosidosis.Semantic proximity Read ↗

Mutations in fucosidosis gene: a review.Semantic proximity Read ↗

Novel mutations in the FUCA1 gene that cause fucosidosis.Semantic proximity Read ↗

Fucosidosis: Review of a Rare DiseaseSemantic proximity Read ↗

Fucosidosis revisited: a review of 77 patients.Semantic proximity Read ↗

A missense mutation (S63L) in alpha-L-fucosidase is responsible for fucosidosis in an Italian patient.Semantic proximity Read ↗

A 66-basepair insertion in exon 6 of the alpha-L-fucosidase gene of a fucosidosis patient.Semantic proximity Read ↗

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