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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...

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PMID: 8105118

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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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