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

Molecular basis of group A xeroderma pigmentosum: a missense mutation and two deletions located in a zinc finger consensus sequence of the XPAC gene.

Human genetics - 1 Mar 1992

Satokata I, Tanaka K, Okada Y

Abstract excerpt

The molecular basis of group A xeroderma pigmentosum (XP) was investigated, and 3 mutations located in a zinc finger consensus sequence (nucleotide 313-387) of the XP group A complementing (XPAC) gene were identified in 2 Caucasian patients GM2990 and GM2009 who had typical symptoms of group A XP. The first mutation was a C deletion at nucleotide 374. Patient GM2990 was a homozygote for this mutation. The second...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Sequence
Share to Base Sequence
Share to Cells, Cultured

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

Share to Cloning, Molecular

Share to Genetic Complementation Test

Share to Molecular Sequence Data

Share to Mutation

Share to Polymerase Chain Reaction

Source

Identifiers

PMID: 1339397
DOI: 10.1007/BF02265282

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

Molecular basis of group A xeroderma pigmentosum: a missense mutation and two deletions located in a zinc finger consensus sequence of the XPAC gene.PMID 1339397Read ↗

Characterization of a splicing mutation in group A xeroderma pigmentosum.Semantic proximity Read ↗

Identification of splicing mutations of the last nucleotides of exons, a nonsense mutation, and a missense mutation of the XPAC gene as causes of group A xeroderma pigmentosum.Semantic proximity Read ↗

Two novel splicing mutations in the XPA gene in patients with group A xeroderma pigmentosum.Semantic proximity Read ↗

Characterization of molecular defects in xeroderma pigmentosum group C.Semantic proximity Read ↗

Three nonsense mutations responsible for group A xeroderma pigmentosum.Semantic proximity Read ↗

Distribution of mutations in the human xeroderma pigmentosum group A gene and their relationships to the functional regions of the DNA damage recognition protein.Semantic proximity Read ↗

A novel XPC pathogenic variant detected in archival material from a patient diagnosed with Xeroderma Pigmentosum: a case report and review of the genetic variants reported in XPC.Semantic proximity Read ↗

Clinical and molecular epidemiological study of xeroderma pigmentosum in China: A case series of 19 patients.Semantic proximity Read ↗

A Splicing Variant in XPA Results in Delayed Onset of Clinical Features of Xeroderma Pigmentosum.Semantic proximity Read ↗

Monozygotic twins with group C xeroderma pigmentosum due to a compound heterozygous mutation in XPC gene.Semantic proximity Read ↗

Loss of Function Variants in the XPC Causes Severe Xeroderma Pigmentosum in Three Large Consanguineous Families.Semantic proximity Read ↗

Identification of a primarily neurological phenotypic expression of xeroderma pigmentosum complementation group A in a Tunisian family.Semantic proximity Read ↗

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