FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2078280461> ?p ?o ?g. }

• W2078280461 endingPage "323" @default.
• W2078280461 startingPage "322" @default.
• W2078280461 abstract "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 variety of tumors, with multiple Basal Cell Carcinomas occurring frequently. We provide here the results of molecular testing of a set of Italian Nevoid Basal Cell Carcinoma Syndrome patients. Twelve familial patients belonging to 7 kindreds and 5 unaffected family members, 6 non-familial patients and an additional set of 7 patients with multiple Basal Cell Carcinoma but no other criteria for the disease were examined for mutations in the PTCH gene. All of the Nevoid Basal Cell Carcinoma Syndrome patients were found to carry variants of the PTCH gene. We detected nine novel mutations (1 of which occurring twice): 1 missense mutation (c.1436T>G [p.L479R]), 1 nonsense mutation (c.1138G>T [p.E380X]), 6 frameshift mutations (c.323_324ins2, c.2011_2012dup, c.2535_2536dup, c.2577_2583del, c.3000_3005del, c.3050_3051del), 1 novel splicing variant (c.6552A>T) and 3 mutations that have been previously reported (c.3168+5G>A, c.1526G>T [p.G509V], and c.3499G>A [p.G1167R]). None of the patients with multiple Basal Cell Carcinoma but no other criteria for the syndrome, carried germline coding region mutations." @default.
• W2078280461 created "2016-06-24" @default.
• W2078280461 creator A5000113911 @default.
• W2078280461 creator A5009820709 @default.
• W2078280461 creator A5011973671 @default.
• W2078280461 creator A5025473720 @default.
• W2078280461 creator A5031109023 @default.
• W2078280461 creator A5036113023 @default.
• W2078280461 creator A5037962041 @default.
• W2078280461 creator A5042265126 @default.
• W2078280461 creator A5044458139 @default.
• W2078280461 creator A5053084731 @default.
• W2078280461 creator A5075469485 @default.
• W2078280461 creator A5088653335 @default.
• W2078280461 creator A5089552352 @default.
• W2078280461 date "2005-01-01" @default.
• W2078280461 modified "2023-10-18" @default.
• W2078280461 title "Molecular characterization of Italian nevoid basal cell carcinoma syndrome patients" @default.
• W2078280461 doi "https://doi.org/10.1002/humu.9317" @default.
• W2078280461 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/15712338" @default.
• W2078280461 hasPublicationYear "2005" @default.
• W2078280461 type Work @default.
• W2078280461 sameAs 2078280461 @default.
• W2078280461 citedByCount "47" @default.
• W2078280461 countsByYear W20782804612012 @default.
• W2078280461 countsByYear W20782804612013 @default.
• W2078280461 countsByYear W20782804612014 @default.
• W2078280461 countsByYear W20782804612015 @default.
• W2078280461 countsByYear W20782804612016 @default.
• W2078280461 countsByYear W20782804612017 @default.
• W2078280461 countsByYear W20782804612018 @default.
• W2078280461 countsByYear W20782804612019 @default.
• W2078280461 countsByYear W20782804612020 @default.
• W2078280461 countsByYear W20782804612022 @default.
• W2078280461 crossrefType "journal-article" @default.
• W2078280461 hasAuthorship W2078280461A5000113911 @default.
• W2078280461 hasAuthorship W2078280461A5009820709 @default.
• W2078280461 hasAuthorship W2078280461A5011973671 @default.
• W2078280461 hasAuthorship W2078280461A5025473720 @default.
• W2078280461 hasAuthorship W2078280461A5031109023 @default.
• W2078280461 hasAuthorship W2078280461A5036113023 @default.
• W2078280461 hasAuthorship W2078280461A5037962041 @default.
• W2078280461 hasAuthorship W2078280461A5042265126 @default.
• W2078280461 hasAuthorship W2078280461A5044458139 @default.
• W2078280461 hasAuthorship W2078280461A5053084731 @default.
• W2078280461 hasAuthorship W2078280461A5075469485 @default.
• W2078280461 hasAuthorship W2078280461A5088653335 @default.
• W2078280461 hasAuthorship W2078280461A5089552352 @default.
• W2078280461 hasBestOaLocation W20782804611 @default.
• W2078280461 hasConcept C104317684 @default.
• W2078280461 hasConcept C13514818 @default.
• W2078280461 hasConcept C142724271 @default.
• W2078280461 hasConcept C2776315809 @default.
• W2078280461 hasConcept C2777994357 @default.
• W2078280461 hasConcept C2778804307 @default.
• W2078280461 hasConcept C2779477247 @default.
• W2078280461 hasConcept C2909761261 @default.
• W2078280461 hasConcept C29906990 @default.
• W2078280461 hasConcept C3019992690 @default.
• W2078280461 hasConcept C501734568 @default.
• W2078280461 hasConcept C502942594 @default.
• W2078280461 hasConcept C54355233 @default.
• W2078280461 hasConcept C71924100 @default.
• W2078280461 hasConcept C75563809 @default.
• W2078280461 hasConcept C86803240 @default.
• W2078280461 hasConcept C88498014 @default.
• W2078280461 hasConcept C96777560 @default.
• W2078280461 hasConceptScore W2078280461C104317684 @default.
• W2078280461 hasConceptScore W2078280461C13514818 @default.
• W2078280461 hasConceptScore W2078280461C142724271 @default.
• W2078280461 hasConceptScore W2078280461C2776315809 @default.
• W2078280461 hasConceptScore W2078280461C2777994357 @default.
• W2078280461 hasConceptScore W2078280461C2778804307 @default.
• W2078280461 hasConceptScore W2078280461C2779477247 @default.
• W2078280461 hasConceptScore W2078280461C2909761261 @default.
• W2078280461 hasConceptScore W2078280461C29906990 @default.
• W2078280461 hasConceptScore W2078280461C3019992690 @default.
• W2078280461 hasConceptScore W2078280461C501734568 @default.
• W2078280461 hasConceptScore W2078280461C502942594 @default.
• W2078280461 hasConceptScore W2078280461C54355233 @default.
• W2078280461 hasConceptScore W2078280461C71924100 @default.
• W2078280461 hasConceptScore W2078280461C75563809 @default.
• W2078280461 hasConceptScore W2078280461C86803240 @default.
• W2078280461 hasConceptScore W2078280461C88498014 @default.
• W2078280461 hasConceptScore W2078280461C96777560 @default.
• W2078280461 hasIssue "3" @default.
• W2078280461 hasLocation W20782804611 @default.
• W2078280461 hasLocation W20782804612 @default.
• W2078280461 hasOpenAccess W2078280461 @default.
• W2078280461 hasPrimaryLocation W20782804611 @default.
• W2078280461 hasRelatedWork W1541551489 @default.
• W2078280461 hasRelatedWork W1823503531 @default.
• W2078280461 hasRelatedWork W2029002321 @default.
• W2078280461 hasRelatedWork W2051346817 @default.
• W2078280461 hasRelatedWork W2184594161 @default.
• W2078280461 hasRelatedWork W2470196166 @default.
• W2078280461 hasRelatedWork W2789628439 @default.
• W2078280461 hasRelatedWork W2885075424 @default.

• next