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Article

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

Experimental dermatology - 1 Dec 2013

Tietze Julia K, Pfob Martina, Eggert Marlene, von Preußen Anna, Mehraein Yasmin, Ruzicka Thomas, Herzinger Thomas

Abstract excerpt

Mutations in the human homolog of the Drosophila patched gene, patched homologue 1 (PTCH-1), are responsible for most hereditary and sporadic basal cell carcinomas. Here, we present a father and daughter with a high propensity for the development of basal cell carcinoma who were heterozygous for a non-coding germline mutation in the 5' untranslated region (UTR) of PTCH-1 (insertion of a surplus CGG triplet at the...

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Identifiers

PMID: 24131384
DOI: 10.1111/exd.12267

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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