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

High prevalence of the point mutation in exon 6 of the xeroderma pigmentosum group A-complementing (XPAC) gene in xeroderma pigmentosum group A patients in Tunisia.

American journal of human genetics - 1 Nov 1993

Nishigori C, Zghal M, Yagi T, Imamura S, Komoun M R, Takebe H

Abstract excerpt

Xeroderma pigmentosum (XP) patients in Tunisia who belong to the genetic complementation group A (XPA) have milder skin symptoms than do Japanese XPA patients. Such difference in the clinical features might be caused by the difference in the site of mutation in the XP A-complementing (XPAC) gene. The purpose of this study is to identify the genetic alterations in the XPAC gene in the Tunisian XPA patients and to...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Base Sequence

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

Share to Cells, Cultured

Share to DNA Primers

Share to Molecular Sequence Data

Share to Phenotype

Share to Polymerase Chain Reaction

Source

Open in PubMed Open full text

Identifiers

PMID: 8105686
PMCID: PMC1682297

Genes

XPA
CGA

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

High prevalence of the point mutation in exon 6 of the xeroderma pigmentosum group A-complementing (XPAC) gene in xeroderma pigmentosum group A patients in Tunisia.PMID 8105686Read ↗

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

Gene alterations and clinical characteristics of xeroderma pigmentosum group A patients in Japan.Semantic proximity Read ↗

Severe phenotypes in two Tunisian families with novel XPA mutations: evidence for a correlation between mutation location and disease severity.Semantic proximity Read ↗

Compound heterozygosity for the Xeroderma pigmentosum complementation group A gene associated with a mild phenotype.Semantic proximity Read ↗

c.1643_1644delTG XPC mutation is more frequent in Moroccan patients with xeroderma pigmentosum.Semantic proximity Read ↗

A case of xeroderma pigmentosum group A diagnosed with a polymerase chain reaction (PCR) technique. Usefulness of PCR in the detection of point mutation in a patient with a hereditary disease.Semantic proximity Read ↗

Diagnosis of Xeroderma Pigmentosum Groups A and C by Detection of Two Prevalent Mutations in West Algerian Population: A Rapid Genotyping Tool for the Frequent XPC Mutation c.1643_1644delTG.Semantic proximity Read ↗

Further evidence of mutational heterogeneity of the XPC gene in Tunisian families: a spectrum of private and ethnic specific mutations.Semantic proximity Read ↗

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

Chronological difference in walking impairment among Japanese group A xeroderma pigmentosum (XP-A) patients with various combinations of mutation sites.Semantic proximity Read ↗

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

Genetic investigation of XPA gene: high frequency of the c.682C>T mutation in Moroccan XP patients with moderate clinical profile.Semantic proximity Read ↗

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