FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2007381889> ?p ?o ?g. }

• W2007381889 endingPage "282" @default.
• W2007381889 startingPage "277" @default.
• W2007381889 abstract "Optic atrophy type 1 (OPA1) gene mutation causes autosomal dominant optic atrophy (ADOA, MIM #165500). Prevalence of ADOA ranges from 1:50,000 in most populations to 1:12,000 in Denmark. Seventy members of nine families were analysed for the presence of OPA1 gene mutations by polymerase chain reaction (PCR) and direct sequencing. We identified three OPA1 gene mutations in 48 patients with variable signs of optic atrophy. Two mutations, c.784-21_784-22insAluYb8 and c.876_878delTGT, were found in two different families. The third mutation, c.869G>A, was found in 28 patients from seven families. The haplotype analysis data suggested that the c.869G>A mutation is a founder mutation. Our main result suggests a higher ADOA prevalence in south-eastern Sicily than previously found in Denmark. This is because of not only the founder effect but also to the presence of three different mutations in the geographical area of the study. Our hypothesis is that a combination of social pressure because of blindness and migration factors is involved. In fact, in Siracusa, a provincial capital in south-eastern Sicily, St. Lucy, the patron saint of the blind was born and died." @default.
• W2007381889 created "2016-06-24" @default.
• W2007381889 creator A5000709417 @default.
• W2007381889 creator A5013004009 @default.
• W2007381889 creator A5019111111 @default.
• W2007381889 creator A5023664888 @default.
• W2007381889 creator A5031701354 @default.
• W2007381889 creator A5041728333 @default.
• W2007381889 creator A5046923181 @default.
• W2007381889 creator A5050099789 @default.
• W2007381889 creator A5090059214 @default.
• W2007381889 date "2011-08-15" @default.
• W2007381889 modified "2023-10-12" @default.
• W2007381889 title "High frequency of OPA1 mutations causing high ADOA prevalence in south-eastern Sicily, Italy" @default.
• W2007381889 cites W1537211747 @default.
• W2007381889 cites W1967445833 @default.
• W2007381889 cites W1972659446 @default.
• W2007381889 cites W1985449116 @default.
• W2007381889 cites W2015328078 @default.
• W2007381889 cites W2028762215 @default.
• W2007381889 cites W2041349738 @default.
• W2007381889 cites W2050388655 @default.
• W2007381889 cites W2058837644 @default.
• W2007381889 cites W2071118353 @default.
• W2007381889 cites W2074435689 @default.
• W2007381889 cites W2098571287 @default.
• W2007381889 cites W2109942343 @default.
• W2007381889 cites W2120695551 @default.
• W2007381889 cites W2137288796 @default.
• W2007381889 cites W2138083349 @default.
• W2007381889 cites W2141610656 @default.
• W2007381889 cites W2146861549 @default.
• W2007381889 cites W2162530578 @default.
• W2007381889 cites W2168154244 @default.
• W2007381889 cites W2169310648 @default.
• W2007381889 doi "https://doi.org/10.1111/j.1399-0004.2011.01751.x" @default.
• W2007381889 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/21745197" @default.
• W2007381889 hasPublicationYear "2011" @default.
• W2007381889 type Work @default.
• W2007381889 sameAs 2007381889 @default.
• W2007381889 citedByCount "5" @default.
• W2007381889 countsByYear W20073818892015 @default.
• W2007381889 countsByYear W20073818892016 @default.
• W2007381889 countsByYear W20073818892017 @default.
• W2007381889 countsByYear W20073818892023 @default.
• W2007381889 crossrefType "journal-article" @default.
• W2007381889 hasAuthorship W2007381889A5000709417 @default.
• W2007381889 hasAuthorship W2007381889A5013004009 @default.
• W2007381889 hasAuthorship W2007381889A5019111111 @default.
• W2007381889 hasAuthorship W2007381889A5023664888 @default.
• W2007381889 hasAuthorship W2007381889A5031701354 @default.
• W2007381889 hasAuthorship W2007381889A5041728333 @default.
• W2007381889 hasAuthorship W2007381889A5046923181 @default.
• W2007381889 hasAuthorship W2007381889A5050099789 @default.
• W2007381889 hasAuthorship W2007381889A5090059214 @default.
• W2007381889 hasConcept C104317684 @default.
• W2007381889 hasConcept C119767625 @default.
• W2007381889 hasConcept C180754005 @default.
• W2007381889 hasConcept C195054827 @default.
• W2007381889 hasConcept C197754878 @default.
• W2007381889 hasConcept C2780929884 @default.
• W2007381889 hasConcept C2781172350 @default.
• W2007381889 hasConcept C49105822 @default.
• W2007381889 hasConcept C501734568 @default.
• W2007381889 hasConcept C54355233 @default.
• W2007381889 hasConcept C71924100 @default.
• W2007381889 hasConcept C86803240 @default.
• W2007381889 hasConceptScore W2007381889C104317684 @default.
• W2007381889 hasConceptScore W2007381889C119767625 @default.
• W2007381889 hasConceptScore W2007381889C180754005 @default.
• W2007381889 hasConceptScore W2007381889C195054827 @default.
• W2007381889 hasConceptScore W2007381889C197754878 @default.
• W2007381889 hasConceptScore W2007381889C2780929884 @default.
• W2007381889 hasConceptScore W2007381889C2781172350 @default.
• W2007381889 hasConceptScore W2007381889C49105822 @default.
• W2007381889 hasConceptScore W2007381889C501734568 @default.
• W2007381889 hasConceptScore W2007381889C54355233 @default.
• W2007381889 hasConceptScore W2007381889C71924100 @default.
• W2007381889 hasConceptScore W2007381889C86803240 @default.
• W2007381889 hasIssue "3" @default.
• W2007381889 hasLocation W20073818891 @default.
• W2007381889 hasLocation W20073818892 @default.
• W2007381889 hasOpenAccess W2007381889 @default.
• W2007381889 hasPrimaryLocation W20073818891 @default.
• W2007381889 hasRelatedWork W1691709891 @default.
• W2007381889 hasRelatedWork W1968394720 @default.
• W2007381889 hasRelatedWork W1969124489 @default.
• W2007381889 hasRelatedWork W2025261418 @default.
• W2007381889 hasRelatedWork W2060631033 @default.
• W2007381889 hasRelatedWork W2144333416 @default.
• W2007381889 hasRelatedWork W2146433281 @default.
• W2007381889 hasRelatedWork W2153992750 @default.
• W2007381889 hasRelatedWork W2162245928 @default.
• W2007381889 hasRelatedWork W2343725014 @default.
• W2007381889 hasVolume "82" @default.
• W2007381889 isParatext "false" @default.
• W2007381889 isRetracted "false" @default.
• W2007381889 magId "2007381889" @default.

• next