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Diffuse and segmental variants of cutaneous leiomyomatosis: novel mutations in the fumarate hydratase gene and review of the literature

✍ Scribed by Sadhanna Badeloe; Michel Van Geel; Maurice A. M. Van Steensel; Jesús Bastida; Juan Ferrando; Peter M. Steijlen; Jorge Frank; Pamela Poblete-Gutiérrez


Book ID
111244029
Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
321 KB
Volume
15
Category
Article
ISSN
0906-6705

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Splice mutations in the p53 gene (TP53) are described as rare events that occur at a frequency of less than 1%. Using a functional assay based on the transcriptional activity of p53 and using RNA as starting material, we describe here a p53 splice mutation that could not be detected by genomic seque