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

[Neurological manifestations and molecular basis of group A xeroderma pigmentosum].

Nihon rinsho. Japanese journal of clinical medicine - 1 Sept 1993

Mimaki T, Tanaka K, Nagai A, Mino M

Abstract excerpt

The molecular basis of group A xeroderma pigmentosum (XP) was investigated by Southern blot analysis of genomic DNA and Northern blot analysis of poly (A)+ RNA from patients with group A and atypical group A XP and normal controls. The clones of a patient with group A XP who had typical symptoms showed a G-->C substitution at the 3' splice acceptor site of intron 3, which is the most common mutation in Japanese...

Topics

Adolescent
Adult
Child
DNA
DNA Mutational Analysis
DNA Repair
Female
Humans
Male
Mutation
Nervous System Diseases
Polymerase Chain Reaction

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymorphism, Restriction Fragment Length

RNA, Messenger

Xeroderma Pigmentosum

Source

Identifiers

PMID: 8105118

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8105118-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Neurological manifestations and molecular basis of group A xeroderma pigmentosum].PMID 8105118Read ↗

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

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

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

Neurological manifestations of xeroderma pigmentosum due to XPA gene mutation.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 ↗

Allelic heterogeneity in group A xeroderma pigmentosum.Semantic proximity Read ↗

Splice site mutations in a xeroderma pigmentosum group A patient with delayed onset of neurological disease.Semantic proximity Read ↗

An XPA gene splicing mutation resulting in trace protein expression in an elderly patient with xeroderma pigmentosum group A without neurological abnormalities.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 ↗

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.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 ↗

PCR-RFLP analysis as an aid to genetic counseling of families of Japanese patients with group A xeroderma pigmentosum.Semantic proximity Read ↗

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