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Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident.

The human homologue of the Drosophila segment polarity gene patched is implicated in the development of nevoid basal cell carcinoma syndrome (NBCCS) and in the genesis of sporadic basal cell carcinomas. In order to examine the phenotypic variability in NBCCS and to highlight functionally important d...

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Bibliografski detalji
Glavni autori: Wicking, C, Shanley, S, Smyth, I, Gillies, S, Negus, K, Graham, S, Suthers, G, Haites, N, Edwards, M, Wainwright, B, Chenevix-Trench, G
Format: Artigo
Jezik:Inglês
Izdano: 1997
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1712561/
https://ncbi.nlm.nih.gov/pubmed/8981943
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