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

doi:10.1016/0921-8777(96)00004-3

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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 t...

Topics

Alleles
Base Sequence
Cell Line
DNA, Complementary
DNA-Binding Proteins
Humans
Introns
Molecular Sequence Data
Nervous System Diseases
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
Polymorphism, Single-Stranded Conformational
RNA Splicing
RNA, Messenger
Radiation Tolerance
Ultraviolet Rays
Xeroderma Pigmentosum
Xeroderma Pigmentosum Group A Protein

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

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8765158-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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