Ontology highlight
ABSTRACT:
SUBMITTER: Wicking C
PROVIDER: S-EPMC1712561 | biostudies-other | 1997 Jan
REPOSITORIES: biostudies-other
Wicking C C Shanley S S Smyth I I Gillies S S Negus K K Graham S S Suthers G G Haites N N Edwards M M Wainwright B B Chenevix-Trench G G
American journal of human genetics 19970101 1
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 domains of the PTCH protein, we have now screened 71 unrelated NBCCS individuals for mutations in the PTCH exons. We identified 28 mutations that are distributed throughout the entire gene, and most (8 ...[more]