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

Novel Tay-Sachs disease mutations from China.

Human mutation - 1 Jan 1992

Akalin N, Shi H P, Vavougios G, Hechtman P, Lo W, Scriver C R, Mahuran D, Kaplan F

Abstract excerpt

We describe three HEXA mutations associated with infantile Tay-Sachs disease (TSD) in three unrelated nonconsanguineous Chinese families. Novel mutations were found in two of these families. The third is a previously reported mutation (G-->A transition at nt 1444) (Nakano et al., 1988). Direct sequencing of PCR products identified a novel insertion of an A after nt 547 in family 1. This change generates an early...

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 Cell Line
Share to Cloning, Molecular

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

Share to Kinetics

Share to Molecular Sequence Data

Share to Mutagenesis, Site-Directed

Share to Mutation

Source

Identifiers

PMID: 1301190
DOI: 10.1002/humu.1380010107

Genes

HEXA

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

Novel Tay-Sachs disease mutations from China.PMID 1301190Read ↗

Molecular analysis of HEXA gene in Argentinean patients affected with Tay-Sachs disease: possible common origin of the prevalent c.459+5A>G mutation.Semantic proximity Read ↗

At least six different mutations in HEXA gene cause Tay-Sachs disease among the Turkish population.Semantic proximity Read ↗

Novel mutations, including the second most common in Japan, in the beta-hexosaminidase alpha subunit gene, and a simple screening of Japanese patients with Tay-Sachs disease.Semantic proximity Read ↗

Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel alleles.Semantic proximity Read ↗

Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.Semantic proximity Read ↗

Three novel mutations in Iranian patients with Tay-Sachs disease.Semantic proximity Read ↗

Tay-Sachs Disease: Two Novel Rare HEXA Mutations from Pakistan and Morocco.Semantic proximity Read ↗

Identification of novel mutations in HEXA gene in children affected with Tay-Sachs disease from IndiaSemantic proximity Read ↗

Eight novel mutations in the HEXA gene.Semantic proximity Read ↗

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

Novel HEXA mutation in a Bedouin Tay-Sachs patient associated with exon skipping and reduced transcript level.Semantic proximity Read ↗

The intron 7 donor splice site transition: a second Tay-Sachs disease mutation in French Canada.Semantic proximity Read ↗

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