Matches in SemOpenAlex for { <https://semopenalex.org/work/W1571050132> ?p ?o ?g. }
- W1571050132 endingPage "379" @default.
- W1571050132 startingPage "364" @default.
- W1571050132 abstract "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." @default.
- W1571050132 created "2016-06-24" @default.
- W1571050132 creator A5008072183 @default.
- W1571050132 creator A5013030378 @default.
- W1571050132 creator A5020470011 @default.
- W1571050132 creator A5023296058 @default.
- W1571050132 creator A5055126868 @default.
- W1571050132 creator A5060195333 @default.
- W1571050132 creator A5074480844 @default.
- W1571050132 creator A5086573810 @default.
- W1571050132 creator A5089708225 @default.
- W1571050132 date "2013-06-12" @default.
- W1571050132 modified "2023-10-18" @default.
- W1571050132 title "Thirty-Nine Novel Neurofibromatosis 1 (<i>NF1)</i>Gene Mutations Identified in Slovak Patients" @default.
- W1571050132 cites W1605045344 @default.
- W1571050132 cites W1673160816 @default.
- W1571050132 cites W194421169 @default.
- W1571050132 cites W1968888587 @default.
- W1571050132 cites W1979291797 @default.
- W1571050132 cites W1979415582 @default.
- W1571050132 cites W1982646874 @default.
- W1571050132 cites W1985425184 @default.
- W1571050132 cites W1987186315 @default.
- W1571050132 cites W1989854187 @default.
- W1571050132 cites W1989981053 @default.
- W1571050132 cites W1990989087 @default.
- W1571050132 cites W1996971359 @default.
- W1571050132 cites W2000161836 @default.
- W1571050132 cites W2013390729 @default.
- W1571050132 cites W2013739794 @default.
- W1571050132 cites W2015997769 @default.
- W1571050132 cites W2022237108 @default.
- W1571050132 cites W2022971724 @default.
- W1571050132 cites W2032346608 @default.
- W1571050132 cites W2035457862 @default.
- W1571050132 cites W2037458235 @default.
- W1571050132 cites W2039752032 @default.
- W1571050132 cites W2043127983 @default.
- W1571050132 cites W2046332888 @default.
- W1571050132 cites W2047337667 @default.
- W1571050132 cites W2048140690 @default.
- W1571050132 cites W2058904389 @default.
- W1571050132 cites W2059145105 @default.
- W1571050132 cites W2059986841 @default.
- W1571050132 cites W2070287558 @default.
- W1571050132 cites W2071893342 @default.
- W1571050132 cites W2072163115 @default.
- W1571050132 cites W2072478579 @default.
- W1571050132 cites W2081141103 @default.
- W1571050132 cites W2081688596 @default.
- W1571050132 cites W2081989648 @default.
- W1571050132 cites W2087588729 @default.
- W1571050132 cites W2088004537 @default.
- W1571050132 cites W2093850568 @default.
- W1571050132 cites W2094770792 @default.
- W1571050132 cites W2097794378 @default.
- W1571050132 cites W2099070792 @default.
- W1571050132 cites W2099589970 @default.
- W1571050132 cites W2100327909 @default.
- W1571050132 cites W2106087802 @default.
- W1571050132 cites W2111090400 @default.
- W1571050132 cites W2126853193 @default.
- W1571050132 cites W2126856749 @default.
- W1571050132 cites W2128140173 @default.
- W1571050132 cites W2132123037 @default.
- W1571050132 cites W2135067999 @default.
- W1571050132 cites W2138616826 @default.
- W1571050132 cites W2139575967 @default.
- W1571050132 cites W2140433864 @default.
- W1571050132 cites W2147878409 @default.
- W1571050132 cites W2149321876 @default.
- W1571050132 cites W2149724253 @default.
- W1571050132 cites W2151067616 @default.
- W1571050132 cites W2155504767 @default.
- W1571050132 cites W2159096148 @default.
- W1571050132 cites W2166863344 @default.
- W1571050132 cites W2168252439 @default.
- W1571050132 cites W2169208337 @default.
- W1571050132 cites W2337836604 @default.
- W1571050132 cites W4247292500 @default.
- W1571050132 cites W4248543924 @default.
- W1571050132 doi "https://doi.org/10.1111/ahg.12026" @default.
- W1571050132 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23758643" @default.
- W1571050132 hasPublicationYear "2013" @default.
- W1571050132 type Work @default.
- W1571050132 sameAs 1571050132 @default.
- W1571050132 citedByCount "26" @default.
- W1571050132 countsByYear W15710501322014 @default.
- W1571050132 countsByYear W15710501322015 @default.
- W1571050132 countsByYear W15710501322016 @default.
- W1571050132 countsByYear W15710501322017 @default.
- W1571050132 countsByYear W15710501322018 @default.
- W1571050132 countsByYear W15710501322020 @default.
- W1571050132 countsByYear W15710501322021 @default.
- W1571050132 countsByYear W15710501322022 @default.
- W1571050132 countsByYear W15710501322023 @default.
- W1571050132 crossrefType "journal-article" @default.
- W1571050132 hasAuthorship W1571050132A5008072183 @default.