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Article

Characterization of a splicing mutation in group A xeroderma pigmentosum.

Proceedings of the National Academy of Sciences of the United States of America - 1 Dec 1990

Satokata I, Tanaka K, Miura N, Miyamoto I, Satoh Y, Kondo S, Okada Y

Abstract excerpt

The molecular basis of group A xeroderma pigmentosum (XP) was investigated by comparison of the nucleotide sequences of multiple clones of the XP group A complementing gene (XPAC) from a patient with group A XP with that of a normal gene. The clones showed a G----C substitution at the 3' splice acceptor site of intron 3, which altered the obligatory AG acceptor dinucleotide to AC. Nucleotide sequencing of cDNAs...

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Identifiers

PMID: 1702221
DOI: 10.1073/pnas.87.24.9908
PMCID: PMC55283

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Characterization of a splicing mutation in group A xeroderma pigmentosum.PMID 1702221Read ↗

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