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Gorlin syndrome: Identification of 4 novel germ-line mutations of the human patched (PTCH) gene

✍ Scribed by Kerstin Hasenpusch-Theil; Veronique Bataille; Jaana Laehdetie; Franz Obermayr; Julian R. Sampson; Anna-Maria Frischauf

Book ID: 101259457
Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 35 KB
Volume: 11
Category: Article
ISSN: 1059-7794
DOI: 10.1002/(sici)1098-1004(1998)11:6<480::aid-humu9>3.0.co;2-4

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✦ Synopsis

PTCH, the human homologue of the Drosophila segment polarity gene, patched, has been identified as the gene responsible for Gorlin or nevoid basal cell carcinoma syndrome (NBCCS). We report here the characterization of four novel mutations in the human PTCH gene in germ-line DNA from Gorlin patients. All mutations lead to truncation of the predicted protein product. Also included is a list of

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