FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3009071772> ?p ?o ?g. }

• W3009071772 endingPage "920" @default.
• W3009071772 startingPage "912" @default.
• W3009071772 abstract "We aim to reveal the disease-causing mutations in 15 Chinese families with optic atrophy (OA).In total, 15 families with OA were recruited in the present study. Medical histories were carefully reviewed and comprehensive ophthalmic examinations were received by all recruited patients. Targeted next-generation sequencing (NGS) was selectively performed on all probands for mutation detection. Intrafamilial cosegregation and in-silico analyses were subsequently applied to predict the potential pathogenic effects of identified mutations.All included patients presented bilateral vision loss. Their fundus photographs showed temporal or total pallor of the optic discs. Fourteen mutations in the optic atrophy 1 (OPA1) gene were revealed as disease-causing mutations for the 15 families, including eight novel (c.968A>G, c.193C>G, c.1071dupT, c.987_988del, c.2012+2T>G, c.1036-1G>C, c.2126A>G, and c.1036_1038del) and six recurrent (c.1499G>A, c.1800C>A, c.1034G>A, c.2873_2876del, c.112C>T, and c.804_805del) mutations.In conclusion, our study expands the mutational spectrum for the OPA1 gene and implies targeted NGS as an effective approach for the genetic diagnosis of OA, which might help to improve the clinical diagnosis for patients with OA." @default.
• W3009071772 created "2020-03-13" @default.
• W3009071772 creator A5011037616 @default.
• W3009071772 creator A5015102287 @default.
• W3009071772 creator A5052821016 @default.
• W3009071772 creator A5054999047 @default.
• W3009071772 creator A5062128542 @default.
• W3009071772 creator A5063419700 @default.
• W3009071772 creator A5074239091 @default.
• W3009071772 creator A5089961613 @default.
• W3009071772 creator A5090477033 @default.
• W3009071772 date "2019-01-01" @default.
• W3009071772 modified "2023-10-14" @default.
• W3009071772 title "Targeted next-generation sequencing extends the mutational spectrums for OPA1 mutations in Chinese families with optic atrophy." @default.
• W3009071772 cites W1980740976 @default.
• W3009071772 cites W1984010675 @default.
• W3009071772 cites W2008362068 @default.
• W3009071772 cites W2024405748 @default.
• W3009071772 cites W2026428819 @default.
• W3009071772 cites W2044237370 @default.
• W3009071772 cites W2053802810 @default.
• W3009071772 cites W2059145105 @default.
• W3009071772 cites W2071118353 @default.
• W3009071772 cites W2075553024 @default.
• W3009071772 cites W2094113524 @default.
• W3009071772 cites W2101833075 @default.
• W3009071772 cites W2109942343 @default.
• W3009071772 cites W2130758099 @default.
• W3009071772 cites W2136054837 @default.
• W3009071772 cites W2138716258 @default.
• W3009071772 cites W2146861549 @default.
• W3009071772 cites W2149738882 @default.
• W3009071772 cites W2168154244 @default.
• W3009071772 cites W2320049655 @default.
• W3009071772 cites W2345282773 @default.
• W3009071772 cites W2415008360 @default.
• W3009071772 cites W2471724469 @default.
• W3009071772 cites W2504204730 @default.
• W3009071772 cites W2512474535 @default.
• W3009071772 cites W2692479174 @default.
• W3009071772 cites W4250750655 @default.
• W3009071772 cites W966426465 @default.
• W3009071772 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6982427" @default.
• W3009071772 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/32025183" @default.
• W3009071772 hasPublicationYear "2019" @default.
• W3009071772 type Work @default.
• W3009071772 sameAs 3009071772 @default.
• W3009071772 citedByCount "2" @default.
• W3009071772 countsByYear W30090717722022 @default.
• W3009071772 countsByYear W30090717722023 @default.
• W3009071772 crossrefType "journal-article" @default.
• W3009071772 hasAuthorship W3009071772A5011037616 @default.
• W3009071772 hasAuthorship W3009071772A5015102287 @default.
• W3009071772 hasAuthorship W3009071772A5052821016 @default.
• W3009071772 hasAuthorship W3009071772A5054999047 @default.
• W3009071772 hasAuthorship W3009071772A5062128542 @default.
• W3009071772 hasAuthorship W3009071772A5063419700 @default.
• W3009071772 hasAuthorship W3009071772A5074239091 @default.
• W3009071772 hasAuthorship W3009071772A5089961613 @default.
• W3009071772 hasAuthorship W3009071772A5090477033 @default.
• W3009071772 hasConcept C104317684 @default.
• W3009071772 hasConcept C118487528 @default.
• W3009071772 hasConcept C142724271 @default.
• W3009071772 hasConcept C188997412 @default.
• W3009071772 hasConcept C2776391266 @default.
• W3009071772 hasConcept C2781172350 @default.
• W3009071772 hasConcept C501734568 @default.
• W3009071772 hasConcept C54355233 @default.
• W3009071772 hasConcept C60644358 @default.
• W3009071772 hasConcept C71924100 @default.
• W3009071772 hasConcept C86803240 @default.
• W3009071772 hasConceptScore W3009071772C104317684 @default.
• W3009071772 hasConceptScore W3009071772C118487528 @default.
• W3009071772 hasConceptScore W3009071772C142724271 @default.
• W3009071772 hasConceptScore W3009071772C188997412 @default.
• W3009071772 hasConceptScore W3009071772C2776391266 @default.
• W3009071772 hasConceptScore W3009071772C2781172350 @default.
• W3009071772 hasConceptScore W3009071772C501734568 @default.
• W3009071772 hasConceptScore W3009071772C54355233 @default.
• W3009071772 hasConceptScore W3009071772C60644358 @default.
• W3009071772 hasConceptScore W3009071772C71924100 @default.
• W3009071772 hasConceptScore W3009071772C86803240 @default.
• W3009071772 hasLocation W30090717721 @default.
• W3009071772 hasOpenAccess W3009071772 @default.
• W3009071772 hasPrimaryLocation W30090717721 @default.
• W3009071772 hasRelatedWork W1995189511 @default.
• W3009071772 hasRelatedWork W2073260365 @default.
• W3009071772 hasRelatedWork W2362650105 @default.
• W3009071772 hasRelatedWork W2372754837 @default.
• W3009071772 hasRelatedWork W2383366521 @default.
• W3009071772 hasRelatedWork W2417766600 @default.
• W3009071772 hasRelatedWork W2988876791 @default.
• W3009071772 hasRelatedWork W3118975915 @default.
• W3009071772 hasRelatedWork W4281651212 @default.
• W3009071772 hasRelatedWork W2343725014 @default.
• W3009071772 hasVolume "25" @default.
• W3009071772 isParatext "false" @default.
• W3009071772 isRetracted "false" @default.

• next