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

Mutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosis.

American journal of human genetics - 1 Jun 1994

Chakraborty S, Rafi M A, Wenger D A

Abstract excerpt

Three adult patients with acid beta-galactosidase deficiency/GM1 gangliosidosis who were from two unrelated families of Scandinavian descent were found to share a common point mutation in the coding region of the corresponding gene. The patients share common clinical features, including early dysarthria, mild ataxia, and bone abnormalities. When cDNA from the two patients in family 1 was PCR amplified and...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to Base Sequence
Share to DNA

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

Share to Gene Expression

Share to Molecular Sequence Data

Share to Mutation

Share to Pedigree

Source

Open in PubMed Open full text

Identifiers

PMID: 8198123
PMCID: PMC1918177

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

Mutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosis.PMID 8198123Read ↗

Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases.Semantic proximity Read ↗

Isolation and characterization of the normal canine beta-galactosidase gene and its mutation in a dog model of GM1-gangliosidosis.Semantic proximity Read ↗

GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients.Semantic proximity Read ↗

Mutations in acid beta-galactosidase cause GM1-gangliosidosis in American patients.Semantic proximity Read ↗

Clinical and molecular heterogeneity in hereditary beta-galactosidase deficiency.Semantic proximity Read ↗

GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.Semantic proximity Read ↗

A duplication in the canine beta-galactosidase gene GLB1 causes exon skipping and GM1-gangliosidosis in Alaskan huskies.Semantic proximity Read ↗

GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects.Semantic proximity Read ↗

[Molecular genetics of beta-galactosidase deficiency (GM1-gangliosidosis and Morquio syndrome type B)].Semantic proximity Read ↗

GM1-gangliosidosis: tandem duplication within exon 3 of beta-galactosidase gene in an infantile patient.Semantic proximity Read ↗

Cloning and expression cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophySemantic proximity Read ↗

[beta-galactosidosis--GM1 gangliosidosis and Morquio B disease].Semantic proximity Read ↗

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