| http://purl.uniprot.org/citations/23758643 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23758643 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23758643 | http://www.w3.org/2000/01/rdf-schema#comment | "We performed a complex analysis of the neurofibromatosis type 1 (NF1) gene in Slovakia based on direct cDNA sequencing supplemented by multiple ligation dependent probe amplification (MLPA) analysis. All 108 patients had café-au-lait spots, 85% had axilary and/or inguinal freckling, 61% neurofibromas, 36% Lisch nodules of the iris and 31% optic pathway glioma, 5% suffered from typical skeletal disorders, and 51% of patients had family members with NF1. In 78 of the 86 (90.7%) index patients our analysis revealed the presence of NF1 mutations, 68 of which were small changes (87.2%), including 39 (50%) novel. Among the identified mutations the most prevalent were small deletions and insertions causing frameshift (42.3%), followed by nonsense (14.1%), missense (12.8%), and typical splicing (11.5%) mutations. Type 1 NF1 deletions and intragenic deletions/duplication were identified in five cases each (6.4%). Interestingly, in five other cases nontypical splicing variants were found, whose real effect on NF1 transcript would have remained undetected if using a DNA-based method alone, thus underlying the advantage of using the cDNA-based sequencing. We show that Slovak NF1 patients have a similar repertoire of NF1 germline mutations compared to other populations, with some prevalence of small deletions/insertions and a decreased proportion of nonsense mutations."xsd:string |
| http://purl.uniprot.org/citations/23758643 | http://purl.org/dc/terms/identifier | "doi:10.1111/ahg.12026"xsd:string |
| http://purl.uniprot.org/citations/23758643 | http://purl.org/dc/terms/identifier | "doi:10.1111/ahg.12026"xsd:string |
| http://purl.uniprot.org/citations/23758643 | http://purl.uniprot.org/core/author | "Nemethova M."xsd:string |
| http://purl.uniprot.org/citations/23758643 | http://purl.uniprot.org/core/author | "Nemethova M."xsd:string |
| http://purl.uniprot.org/citations/23758643 | http://purl.uniprot.org/core/author | "Kovacs L."xsd:string |
| http://purl.uniprot.org/citations/23758643 | http://purl.uniprot.org/core/author | "Kovacs L."xsd:string |
| http://purl.uniprot.org/citations/23758643 | http://purl.uniprot.org/core/author | "Kadasi L."xsd:string |
| http://purl.uniprot.org/citations/23758643 | http://purl.uniprot.org/core/author | "Kadasi L."xsd:string |
| http://purl.uniprot.org/citations/23758643 | http://purl.uniprot.org/core/author | "Zatkova A."xsd:string |
| http://purl.uniprot.org/citations/23758643 | http://purl.uniprot.org/core/author | "Zatkova A."xsd:string |
| http://purl.uniprot.org/citations/23758643 | http://purl.uniprot.org/core/author | "Hlavata A."xsd:string |
| http://purl.uniprot.org/citations/23758643 | http://purl.uniprot.org/core/author | "Hlavata A."xsd:string |
| http://purl.uniprot.org/citations/23758643 | http://purl.uniprot.org/core/author | "Ilencikova D."xsd:string |
| http://purl.uniprot.org/citations/23758643 | http://purl.uniprot.org/core/author | "Ilencikova D."xsd:string |
| http://purl.uniprot.org/citations/23758643 | http://purl.uniprot.org/core/author | "Bolcekova A."xsd:string |
| http://purl.uniprot.org/citations/23758643 | http://purl.uniprot.org/core/author | "Bolcekova A."xsd:string |
| http://purl.uniprot.org/citations/23758643 | http://purl.uniprot.org/core/author | "Durovcikova D."xsd:string |
| http://purl.uniprot.org/citations/23758643 | http://purl.uniprot.org/core/author | "Durovcikova D."xsd:string |
| http://purl.uniprot.org/citations/23758643 | http://purl.uniprot.org/core/author | "Hlinkova K."xsd:string |
| http://purl.uniprot.org/citations/23758643 | http://purl.uniprot.org/core/author | "Hlinkova K."xsd:string |
| http://purl.uniprot.org/citations/23758643 | http://purl.uniprot.org/core/date | "2013"xsd:gYear |
| http://purl.uniprot.org/citations/23758643 | http://purl.uniprot.org/core/date | "2013"xsd:gYear |