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Article

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

Mutation research - 8 Aug 1996

States J C, Myrand S P

Abstract excerpt

XP12BE is a commonly studied XP-A cell line that exhibits slightly increased resistance to UV compared with the majority of XP-A cell lines. The elevated UV survival is common to a subset of XP-A cell lines and correlates with delayed onset of the neurological disease in patients. We identified the XPA mutations in XP12BE by single strand conformation polymorphism (SSCP) analyses and nucleotide sequencing. XP12BE...

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Source

Identifiers

PMID: 8765158
DOI: 10.1016/0921-8777(96)00004-3

Genes

XPA

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

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Research trail→

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Splice site mutations in a xeroderma pigmentosum group A patient with delayed onset of neurological disease.PMID 8765158Read ↗

XPC branch-point sequence mutations disrupt U2 snRNP binding, resulting in abnormal pre-mRNA splicing in xeroderma pigmentosum patients.Semantic proximity Read ↗

Novel mutation identified in the DDB2 gene in patients with xeroderma pigmentosum group-E.Semantic proximity Read ↗

Three nonsense mutations responsible for 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 ↗

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 ↗

A Splicing Variant in XPA Results in Delayed Onset of Clinical Features of 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 ↗

Polymorphisms in the human xeroderma pigmentosum group A gene and their impact on cell survival and nucleotide excision repair.Semantic proximity Read ↗

Xeroderma Pigmentosum: Gene Variants and Splice Variants.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 ↗

The founding members of xeroderma pigmentosum group G produce XPG protein with severely impaired endonuclease activity.Semantic proximity Read ↗

A deletion and an insertion in the alleles for the xeroderma pigmentosum (XPA) DNA-binding protein in mildly affected patients.Semantic proximity Read ↗

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