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Article

The effects of splice site mutations in patients with naevoid basal cell carcinoma syndrome.

Human genetics - 1 May 1998

Smyth I, Wicking C, Wainwright B, Chenevix-Trench G

Abstract excerpt

We have previously identified the human homologue of the Drosophila patched gene and have described, in this gene, mutations that give rise to naevoid basal cell carcinoma syndrome (NBCCS). Here, we have analysed the effects of three splice site mutations within human PATCHED (PTCH) by the reverse transcription/polymerase chain reaction method in cultured patient lymphocyte cell lines. Two alterations, a point...

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Identifiers

PMID: 9654212
DOI: 10.1007/s004390050747

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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.

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The effects of splice site mutations in patients with naevoid basal cell carcinoma syndrome.PMID 9654212Read ↗

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A non-coding mutation in the 5' untranslated region of patched homologue 1 predisposes to basal cell carcinoma.Semantic proximity Read ↗

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