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Article

Allelic heterogeneity in group A xeroderma pigmentosum.

Acta neurologica Scandinavica - 1 May 1992

Mimaki T, Tanaka K, Okada Y, Minami R, Tachi N, Nagai A, Mino M

Abstract excerpt

The molecular basis of Group A xeroderma pigmentosum was investigated by restriction fragment length polymorphism analysis of PCR-amplified DNA sequences using the two restriction enzymes, endonucleases AlwN I and Hph I. The clones of a patient with Group A xeroderma pigmentosum who had typical symptoms showed a G-C substitution at the 3' splice acceptor site of intron 3. However, of the two atypical Group A...

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Identifiers

PMID: 1621494
DOI: 10.1111/j.1600-0404.1992.tb04052.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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