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

doi:10.1007/s004390050747

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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 revers...

Topics

Alternative Splicing
Basal Cell Nevus Syndrome
Humans
Membrane Proteins
Mutation
Patched Receptors
Patched-1 Receptor
Receptors, Cell Surface
Tumor Cells, Cultured

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