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

A common mutation site in the beta-galactosidase gene originates in Puerto Rico.

Pediatric neurology - 1 Jan 1996

Chiu N C, Qian W H, Shanske A L, Brooks S S, Boustany R M

Abstract excerpt

Several mutation sites have been found in the beta-galactosidase gene of patients with GM1 gangliosidosis. In a previous report we found a common point mutation site in American patients with GM1 gangliosidosis resulting in a 208Arg --> Cys amino acid substitution. From the patients' family history, we suggested that this mutation may have come to South and North America via Puerto Rico. Four new patients with...

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 beta-Galactosidase

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

Share to Child, Preschool

Share to Infant

Share to Molecular Sequence Data

Share to Phenotype

Share to Point Mutation

Source

Identifiers

PMID: 8652017
DOI: 10.1016/0887-8994(95)00255-3

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A common mutation site in the beta-galactosidase gene originates in Puerto Rico.PMID 8652017Read ↗

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

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

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

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

GM2-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene abnormalities in seven patients.Semantic proximity Read ↗

Six novel ?-galactosidase gene mutations in Brazilian patients with GM1-gangliosidosisSemantic proximity Read ↗

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

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

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

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

Mutation analysis of GM1 gangliosidosis in a Siamese cat from Japan in the 1960s.Semantic proximity Read ↗

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