Matches in SemOpenAlex for { <https://semopenalex.org/work/W2096666397> ?p ?o ?g. }
Showing items 1 to 81 of
81
with 100 items per page.
- W2096666397 endingPage "403" @default.
- W2096666397 startingPage "402" @default.
- W2096666397 abstract "To describe the phenotype of an individual homozygous for the common Gln368STOP myocilin mutation and to discuss the other family members.Cascade screening was performed for Australian families that had been identified as having the myocilin Gln368STOP mutation.Recruited subjects underwent comprehensive clinical examination and mutation analysis for the Gln368STOP myocilin mutation by direct sequencing.One 49-year-old woman was found to be homozygous for the mutation. Her maximal recorded intraocular pressure was 17 mm Hg. Bilateral optic disk examination revealed small, healthy optic discs. Automated perimetry testing was normal.Neither the individual homozygous for the Gln368STOP myocilin mutation nor her younger heterozygous siblings displayed any signs suggestive of glaucoma. One of the two heterozygous parents did manifest glaucoma. Although there is the possibility of the homozygous individual developing glaucoma in the future, she does not manifest a phenotype that is more severe than usual." @default.
- W2096666397 created "2016-06-24" @default.
- W2096666397 creator A5036614947 @default.
- W2096666397 creator A5037433676 @default.
- W2096666397 creator A5040284130 @default.
- W2096666397 creator A5042873854 @default.
- W2096666397 creator A5045241030 @default.
- W2096666397 date "2006-02-01" @default.
- W2096666397 modified "2023-10-10" @default.
- W2096666397 title "A Myocilin Gln368STOP Homozygote Does Not Exhibit a More Severe Glaucoma Phenotype Than Heterozygous Cases" @default.
- W2096666397 cites W1495741587 @default.
- W2096666397 cites W1586765487 @default.
- W2096666397 cites W1831941353 @default.
- W2096666397 cites W2071809494 @default.
- W2096666397 cites W2128215534 @default.
- W2096666397 doi "https://doi.org/10.1016/j.ajo.2005.08.073" @default.
- W2096666397 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/16458712" @default.
- W2096666397 hasPublicationYear "2006" @default.
- W2096666397 type Work @default.
- W2096666397 sameAs 2096666397 @default.
- W2096666397 citedByCount "16" @default.
- W2096666397 countsByYear W20966663972012 @default.
- W2096666397 countsByYear W20966663972013 @default.
- W2096666397 countsByYear W20966663972014 @default.
- W2096666397 countsByYear W20966663972022 @default.
- W2096666397 crossrefType "journal-article" @default.
- W2096666397 hasAuthorship W2096666397A5036614947 @default.
- W2096666397 hasAuthorship W2096666397A5037433676 @default.
- W2096666397 hasAuthorship W2096666397A5040284130 @default.
- W2096666397 hasAuthorship W2096666397A5042873854 @default.
- W2096666397 hasAuthorship W2096666397A5045241030 @default.
- W2096666397 hasConcept C104317684 @default.
- W2096666397 hasConcept C118487528 @default.
- W2096666397 hasConcept C12125453 @default.
- W2096666397 hasConcept C127716648 @default.
- W2096666397 hasConcept C135763542 @default.
- W2096666397 hasConcept C153471976 @default.
- W2096666397 hasConcept C2778527774 @default.
- W2096666397 hasConcept C2781092963 @default.
- W2096666397 hasConcept C2781147369 @default.
- W2096666397 hasConcept C2991803831 @default.
- W2096666397 hasConcept C501734568 @default.
- W2096666397 hasConcept C54355233 @default.
- W2096666397 hasConcept C71924100 @default.
- W2096666397 hasConcept C86803240 @default.
- W2096666397 hasConceptScore W2096666397C104317684 @default.
- W2096666397 hasConceptScore W2096666397C118487528 @default.
- W2096666397 hasConceptScore W2096666397C12125453 @default.
- W2096666397 hasConceptScore W2096666397C127716648 @default.
- W2096666397 hasConceptScore W2096666397C135763542 @default.
- W2096666397 hasConceptScore W2096666397C153471976 @default.
- W2096666397 hasConceptScore W2096666397C2778527774 @default.
- W2096666397 hasConceptScore W2096666397C2781092963 @default.
- W2096666397 hasConceptScore W2096666397C2781147369 @default.
- W2096666397 hasConceptScore W2096666397C2991803831 @default.
- W2096666397 hasConceptScore W2096666397C501734568 @default.
- W2096666397 hasConceptScore W2096666397C54355233 @default.
- W2096666397 hasConceptScore W2096666397C71924100 @default.
- W2096666397 hasConceptScore W2096666397C86803240 @default.
- W2096666397 hasIssue "2" @default.
- W2096666397 hasLocation W20966663971 @default.
- W2096666397 hasLocation W20966663972 @default.
- W2096666397 hasOpenAccess W2096666397 @default.
- W2096666397 hasPrimaryLocation W20966663971 @default.
- W2096666397 hasRelatedWork W1977783530 @default.
- W2096666397 hasRelatedWork W199292570 @default.
- W2096666397 hasRelatedWork W1996537036 @default.
- W2096666397 hasRelatedWork W2048665593 @default.
- W2096666397 hasRelatedWork W2075286956 @default.
- W2096666397 hasRelatedWork W2239285033 @default.
- W2096666397 hasRelatedWork W2363132949 @default.
- W2096666397 hasRelatedWork W23766661 @default.
- W2096666397 hasRelatedWork W2968718595 @default.
- W2096666397 hasRelatedWork W74963343 @default.
- W2096666397 hasVolume "141" @default.
- W2096666397 isParatext "false" @default.
- W2096666397 isRetracted "false" @default.
- W2096666397 magId "2096666397" @default.
- W2096666397 workType "article" @default.