Molecular characterization of Italian nevoid basal cell carcinoma syndrome patients

Mutations in the PTCH gene, the human homolog of the Drosophila patched gene, have been found to lead to the autosomal dominant disorder termed Nevoid Basal Cell Carcinoma Syndrome (NBCCS, also called Gorlin Syndrome). Patients display an array of developmental anomalies and are prone to develop a v...

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Veröffentlicht in:	Human mutation 2005-03, Vol.25 (3), p.322-323
Hauptverfasser:	Pastorino, L., Cusano, R., Nasti, S., Faravelli, F., Forzano, F., Baldo, C., Barile, M., Gliori, S., Muggianu, M., Ghigliotti, G., Lacaita, M.G., Lo Muzio, L., Bianchi-Scarra, G.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Amino Acid Sequence Basal Cell Nevus Syndrome - genetics Child Codon, Nonsense Consensus Sequence DNA Mutational Analysis Drosophila Female Frameshift Mutation Gorlin Syndrome Humans Italian Italy Male Middle Aged Molecular Sequence Data Mutation, Missense NBCCS patched Patched Receptors Patched-1 Receptor Phenotype Point Mutation PTCH Receptors, Cell Surface - genetics Reverse Transcriptase Polymerase Chain Reaction RNA Splice Sites - genetics Sequence Alignment Sequence Homology, Amino Acid
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