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http://purl.uniprot.org/citations/12604725 | http://www.w3.org/2000/01/rdf-schema#comment | "We employed polymerase chain reaction and DNA sequencing analysis to characterize the PTCH gene in a Japanese nevoid basal cell carcinoma syndrome (NBCCS) patient suffering from meningioma, multiple basal cell carcinoma and epidermal cysts. Direct sequence analyses revealed a novel single base deletion at nucleotide 2613 in exon 16 (2613delC) in one PTCH allele, resulting in the frame shift and the introduction of a premature termination codon in this mutated allele."xsd:string |
http://purl.uniprot.org/citations/12604725 | http://purl.org/dc/terms/identifier | "doi:10.1093/jjco/hyg005"xsd:string |
http://purl.uniprot.org/citations/12604725 | http://purl.uniprot.org/core/author | "Li M."xsd:string |
http://purl.uniprot.org/citations/12604725 | http://purl.uniprot.org/core/author | "Suzuki T."xsd:string |
http://purl.uniprot.org/citations/12604725 | http://purl.uniprot.org/core/author | "Mitsuya T."xsd:string |
http://purl.uniprot.org/citations/12604725 | http://purl.uniprot.org/core/author | "Tate G."xsd:string |
http://purl.uniprot.org/citations/12604725 | http://purl.uniprot.org/core/date | "2003"xsd:gYear |
http://purl.uniprot.org/citations/12604725 | http://purl.uniprot.org/core/name | "Jpn J Clin Oncol"xsd:string |
http://purl.uniprot.org/citations/12604725 | http://purl.uniprot.org/core/pages | "47-50"xsd:string |
http://purl.uniprot.org/citations/12604725 | http://purl.uniprot.org/core/title | "A new germline mutation of the PTCH gene in a Japanese patient with nevoid basal cell carcinoma syndrome associated with meningioma."xsd:string |
http://purl.uniprot.org/citations/12604725 | http://purl.uniprot.org/core/volume | "33"xsd:string |
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