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

An unusual genotype in an Ashkenazi Jewish patient with Tay-Sachs disease.

Human mutation - 1 Jan 1992

Shore S, Tomczak J, Grebner E E, Myerowitz R

Abstract excerpt

The Ashkenazi Jewish population is enriched for carriers of a fatal form of Tay-Sachs disease, a recessive inherited disorder caused by mutations in the alpha-chain of the lysosomal enzyme beta-hexosaminidase A. Approximately 20% of the Ashkenazi carriers harbor a splice junction defect while about 78% bear a 4 base pair (bp) insertion. However, the Ashkenazi Jewish patient used in the original description of the...

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 Cloning, Molecular

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

Share to DNA Mutational Analysis

Share to Genotype

Share to Molecular Sequence Data

Share to Point Mutation

Source

Identifiers

PMID: 1301958
DOI: 10.1002/humu.1380010606

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

An unusual genotype in an Ashkenazi Jewish patient with Tay-Sachs disease.PMID 1301958Read ↗

Homozygosity for the common Ashkenazi jewish Tay-Sachs +1 IVS-12 splice-junction mutation: first report.Semantic proximity Read ↗

A gel electrophoretic assay for detecting the insertion defect in Ashkenazi Jewish carriers of Tay-Sachs disease.Semantic proximity Read ↗

Beta-hexosaminidase splice site mutation has a high frequency among non-Jewish Tay-Sachs disease carriers from the British Isles.Semantic proximity Read ↗

The molecular basis of Tay-Sachs disease: mutation identification and diagnosis.Semantic proximity Read ↗

A mutation common in non-Jewish Tay-Sachs disease: frequency and RNA studies.Semantic proximity Read ↗

Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individuals.Semantic proximity Read ↗

Distribution of three alpha-chain beta-hexosaminidase A mutations among Tay-Sachs carriers.Semantic proximity Read ↗

Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease.Semantic proximity Read ↗

A new point mutation in the beta-hexosaminidase alpha subunit gene responsible for infantile Tay-Sachs disease in a non-Jewish Caucasian patient (a Kpn mutant).Semantic proximity Read ↗

Frequency of the Tay-Sachs disease splice and insertion mutations in the UK Ashkenazi Jewish population.Semantic proximity Read ↗

Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene.Semantic proximity Read ↗

A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening.Semantic proximity Read ↗

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