Matches in SemOpenAlex for { <https://semopenalex.org/work/W2895540025> ?p ?o ?g. }
Showing items 1 to 93 of
93
with 100 items per page.
- W2895540025 abstract "To report five novel genetic variants in seven unrelated consanguineous families with achromatopsia (ACHM).Patients were examined with multimodal retinal imaging and full-field electroretinography (ffERG). Genetic testing was conducted using next-generation sequencing (NGS).Three novel homozygous variants were detected in CNGA3: a missense c.967G > C (p.Ala323Pro) variant was detected in exon 8 (one patient), a splice site variant c.101 + 1G > A in intron 2 (three patients), and a splice site variant c.395 + 1G > T in intron 4(one patient). Another two novel variants were found in PDE6C: a homozygous missense variant c.1899C > A (p.His633Gln) in exon 15 (one patient) and a homozygous splice site variant c.1072-1G > C in intron 7 (one patient). Mutation segregation assessment was possible in 3 of the 7 families. All patients had nonrecordable ffERG 30-Hz flicker responses, reduced single-flash cone responses but preserved rod responses. Patients presented with variable degrees of foveal outer retinal layer loss and variable patterns of foveal hyperautofluorescence.These novel variants expand the genotypes associated with ACHM and may help in future therapy development for ACHM." @default.
- W2895540025 created "2018-10-12" @default.
- W2895540025 creator A5019539422 @default.
- W2895540025 creator A5021249127 @default.
- W2895540025 creator A5021516367 @default.
- W2895540025 creator A5029351144 @default.
- W2895540025 creator A5041021005 @default.
- W2895540025 creator A5083139430 @default.
- W2895540025 date "2018-10-05" @default.
- W2895540025 modified "2023-09-26" @default.
- W2895540025 title "Novel causative variants in patients with achromatopsia" @default.
- W2895540025 cites W1011627610 @default.
- W2895540025 cites W1990113746 @default.
- W2895540025 cites W2003873813 @default.
- W2895540025 cites W2010048790 @default.
- W2895540025 cites W2047510187 @default.
- W2895540025 cites W2049407329 @default.
- W2895540025 cites W2061331516 @default.
- W2895540025 cites W2084637683 @default.
- W2895540025 cites W2103839548 @default.
- W2895540025 cites W2128582098 @default.
- W2895540025 cites W2152477540 @default.
- W2895540025 cites W2159266957 @default.
- W2895540025 cites W2161728843 @default.
- W2895540025 cites W2256016639 @default.
- W2895540025 cites W2280681006 @default.
- W2895540025 cites W2781651954 @default.
- W2895540025 doi "https://doi.org/10.1080/13816810.2018.1522653" @default.
- W2895540025 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30289319" @default.
- W2895540025 hasPublicationYear "2018" @default.
- W2895540025 type Work @default.
- W2895540025 sameAs 2895540025 @default.
- W2895540025 citedByCount "6" @default.
- W2895540025 countsByYear W28955400252019 @default.
- W2895540025 countsByYear W28955400252020 @default.
- W2895540025 countsByYear W28955400252022 @default.
- W2895540025 crossrefType "journal-article" @default.
- W2895540025 hasAuthorship W2895540025A5019539422 @default.
- W2895540025 hasAuthorship W2895540025A5021249127 @default.
- W2895540025 hasAuthorship W2895540025A5021516367 @default.
- W2895540025 hasAuthorship W2895540025A5029351144 @default.
- W2895540025 hasAuthorship W2895540025A5041021005 @default.
- W2895540025 hasAuthorship W2895540025A5083139430 @default.
- W2895540025 hasConcept C104317684 @default.
- W2895540025 hasConcept C118487528 @default.
- W2895540025 hasConcept C194583182 @default.
- W2895540025 hasConcept C2777906962 @default.
- W2895540025 hasConcept C2779113765 @default.
- W2895540025 hasConcept C2780827179 @default.
- W2895540025 hasConcept C2780989783 @default.
- W2895540025 hasConcept C2781114197 @default.
- W2895540025 hasConcept C36823959 @default.
- W2895540025 hasConcept C501734568 @default.
- W2895540025 hasConcept C54355233 @default.
- W2895540025 hasConcept C62257209 @default.
- W2895540025 hasConcept C71924100 @default.
- W2895540025 hasConcept C75563809 @default.
- W2895540025 hasConcept C86803240 @default.
- W2895540025 hasConcept C94671646 @default.
- W2895540025 hasConceptScore W2895540025C104317684 @default.
- W2895540025 hasConceptScore W2895540025C118487528 @default.
- W2895540025 hasConceptScore W2895540025C194583182 @default.
- W2895540025 hasConceptScore W2895540025C2777906962 @default.
- W2895540025 hasConceptScore W2895540025C2779113765 @default.
- W2895540025 hasConceptScore W2895540025C2780827179 @default.
- W2895540025 hasConceptScore W2895540025C2780989783 @default.
- W2895540025 hasConceptScore W2895540025C2781114197 @default.
- W2895540025 hasConceptScore W2895540025C36823959 @default.
- W2895540025 hasConceptScore W2895540025C501734568 @default.
- W2895540025 hasConceptScore W2895540025C54355233 @default.
- W2895540025 hasConceptScore W2895540025C62257209 @default.
- W2895540025 hasConceptScore W2895540025C71924100 @default.
- W2895540025 hasConceptScore W2895540025C75563809 @default.
- W2895540025 hasConceptScore W2895540025C86803240 @default.
- W2895540025 hasConceptScore W2895540025C94671646 @default.
- W2895540025 hasLocation W28955400251 @default.
- W2895540025 hasLocation W28955400252 @default.
- W2895540025 hasOpenAccess W2895540025 @default.
- W2895540025 hasPrimaryLocation W28955400251 @default.
- W2895540025 hasRelatedWork W1588057732 @default.
- W2895540025 hasRelatedWork W1851998043 @default.
- W2895540025 hasRelatedWork W1973942562 @default.
- W2895540025 hasRelatedWork W2028440755 @default.
- W2895540025 hasRelatedWork W2041804086 @default.
- W2895540025 hasRelatedWork W2126469534 @default.
- W2895540025 hasRelatedWork W2143244933 @default.
- W2895540025 hasRelatedWork W2327872757 @default.
- W2895540025 hasRelatedWork W2352043710 @default.
- W2895540025 hasRelatedWork W4293389263 @default.
- W2895540025 isParatext "false" @default.
- W2895540025 isRetracted "false" @default.
- W2895540025 magId "2895540025" @default.
- W2895540025 workType "article" @default.