Matches in SemOpenAlex for { <https://semopenalex.org/work/W4387640092> ?p ?o ?g. }
Showing items 1 to 63 of
63
with 100 items per page.
- W4387640092 abstract "Herein we investigated mutations in the ABCA4 gene in an Iranian patient with Stargardt disease using whole exome sequencing (WES). We evaluated genetic alterations in a 13-year-old Iranian girl with Stargardt disease and her family using WES. The target sequences for the proband and her parents were then amplified through polymerase chain reaction (PCR) and the obtained products were screened for mutations in ABCA4 gene by Sanger chain terminating dideoxy nucleotide sequencing. Two novel potentially pathogenic mutations in compound heterozygous state (c.2713del p.E905Rfs*27 and c.5172G>A p.W1724X) were identified in ABCA4 gene which may contribute to the proband’s Stargardt disease phenotype. In general, the WES successfully identified novel causal mutations in ABCA4 gene which may be used for genetic counseling, prenatal diagnosis (PND), and preimplantation genetic diagnosis (PGD) of Stargardt disease." @default.
- W4387640092 created "2023-10-15" @default.
- W4387640092 creator A5018149297 @default.
- W4387640092 creator A5053235903 @default.
- W4387640092 creator A5058613967 @default.
- W4387640092 date "2023-10-13" @default.
- W4387640092 modified "2023-10-15" @default.
- W4387640092 title "Identification of Two Novel Mutations in ABCA4 Gene in a Patient With Stargardt Disease" @default.
- W4387640092 doi "https://doi.org/10.18502/acta.v61i6.13832" @default.
- W4387640092 hasPublicationYear "2023" @default.
- W4387640092 type Work @default.
- W4387640092 citedByCount "0" @default.
- W4387640092 crossrefType "journal-article" @default.
- W4387640092 hasAuthorship W4387640092A5018149297 @default.
- W4387640092 hasAuthorship W4387640092A5053235903 @default.
- W4387640092 hasAuthorship W4387640092A5058613967 @default.
- W4387640092 hasBestOaLocation W43876400921 @default.
- W4387640092 hasConcept C104317684 @default.
- W4387640092 hasConcept C12125453 @default.
- W4387640092 hasConcept C127716648 @default.
- W4387640092 hasConcept C16671776 @default.
- W4387640092 hasConcept C188997412 @default.
- W4387640092 hasConcept C2779460726 @default.
- W4387640092 hasConcept C2780604041 @default.
- W4387640092 hasConcept C2994225774 @default.
- W4387640092 hasConcept C49105822 @default.
- W4387640092 hasConcept C501734568 @default.
- W4387640092 hasConcept C54355233 @default.
- W4387640092 hasConcept C71924100 @default.
- W4387640092 hasConcept C76818968 @default.
- W4387640092 hasConcept C80227256 @default.
- W4387640092 hasConcept C86803240 @default.
- W4387640092 hasConceptScore W4387640092C104317684 @default.
- W4387640092 hasConceptScore W4387640092C12125453 @default.
- W4387640092 hasConceptScore W4387640092C127716648 @default.
- W4387640092 hasConceptScore W4387640092C16671776 @default.
- W4387640092 hasConceptScore W4387640092C188997412 @default.
- W4387640092 hasConceptScore W4387640092C2779460726 @default.
- W4387640092 hasConceptScore W4387640092C2780604041 @default.
- W4387640092 hasConceptScore W4387640092C2994225774 @default.
- W4387640092 hasConceptScore W4387640092C49105822 @default.
- W4387640092 hasConceptScore W4387640092C501734568 @default.
- W4387640092 hasConceptScore W4387640092C54355233 @default.
- W4387640092 hasConceptScore W4387640092C71924100 @default.
- W4387640092 hasConceptScore W4387640092C76818968 @default.
- W4387640092 hasConceptScore W4387640092C80227256 @default.
- W4387640092 hasConceptScore W4387640092C86803240 @default.
- W4387640092 hasLocation W43876400921 @default.
- W4387640092 hasOpenAccess W4387640092 @default.
- W4387640092 hasPrimaryLocation W43876400921 @default.
- W4387640092 hasRelatedWork W1176855676 @default.
- W4387640092 hasRelatedWork W1976851567 @default.
- W4387640092 hasRelatedWork W2084235299 @default.
- W4387640092 hasRelatedWork W2443366138 @default.
- W4387640092 hasRelatedWork W3151109984 @default.
- W4387640092 hasRelatedWork W4235587654 @default.
- W4387640092 hasRelatedWork W4245430697 @default.
- W4387640092 hasRelatedWork W4383066835 @default.
- W4387640092 hasRelatedWork W4384119948 @default.
- W4387640092 hasRelatedWork W846831161 @default.
- W4387640092 isParatext "false" @default.
- W4387640092 isRetracted "false" @default.
- W4387640092 workType "article" @default.