Spectrum of PTCH1 Mutations in French Patients with Gorlin Syndrome

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Presentation transcript:

Spectrum of PTCH1 Mutations in French Patients with Gorlin Syndrome Nathalie Boutet, Yves-Jean Bignon, Valérie Drouin-Garraud, Pierre Sarda, Michel Longy, Didier Lacombe, Philippe Gorry Journal of Investigative Dermatology Volume 121, Issue 3, Pages 478-481 (September 2003) DOI: 10.1046/j.1523-1747.2003.12423.x Copyright © 2003 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Identification of mutation Q177del in exon 3 of the PTCH gene. (A) DNA sequencing of the ACA deletion. (B) Amino acid sequence conservation of the mutated amino acid. Alignment of the amino acid sequences of human (Hs), mouse (Mm), zebrafish (Dr), chicken (Gg), and Xenopus (Xl) PTCH protein (GenBank Accession nos. U59464, U46155, AJ007742, U40074, and AF302765, respectively). The deleted amino acid is boxed. Journal of Investigative Dermatology 2003 121, 478-481DOI: (10.1046/j.1523-1747.2003.12423.x) Copyright © 2003 The Society for Investigative Dermatology, Inc Terms and Conditions