FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2023595527> ?p ?o ?g. }

• W2023595527 endingPage "6" @default.
• W2023595527 startingPage "1" @default.
• W2023595527 abstract "Mutations of the CYP1B1 gene cause primary congenital glaucoma (PCG), Peters anomaly, and juvenile open-angle glaucoma (JOAG). The aim of this study was to determine the spectrum and role of the CYP1B1 gene in Japanese patients with PCG or JOAG.Genomic DNA was extracted from the leukocytes of 18 unrelated patients with PCG and 21 unrelated patients with JOAG. All of the patients developed high intraocular pressure (IOP) before the age of 35 years. One hundred unrelated healthy adults with normal IOP were examined in the same way. The three exons of the CYP1B1 gene were amplified by polymerase chain reaction and directly sequenced.Mutational screening and sequence analyses of the CYP1B1 gene revealed four mutations in four patients with PCG: p.Asp192Val, c.4776insAT, p.Val364Met, and p.Asp430Glu. The first three mutations have been reported in other Japanese PCG patients, but Asp430Glu is a new mutation. No mutations were found in the CYP1B1 gene of the JOAG patients.PCG in approximately 20% of Japanese patients may be associated with CYP1B1 mutations, but JOAG is not. The three mutations p.Asp192Val, c.4776insAT, and p.Val364Met appear to be common in the Japanese population and might be useful in genetic screening for PCG." @default.
• W2023595527 created "2016-06-24" @default.
• W2023595527 creator A5003779897 @default.
• W2023595527 creator A5006581351 @default.
• W2023595527 creator A5022621431 @default.
• W2023595527 creator A5033571681 @default.
• W2023595527 creator A5043708497 @default.
• W2023595527 creator A5090433474 @default.
• W2023595527 date "2010-01-01" @default.
• W2023595527 modified "2023-09-27" @default.
• W2023595527 title "Mutation spectrum of the CYP1B1 gene for congenital glaucoma in the Japanese population" @default.
• W2023595527 cites W1951869808 @default.
• W2023595527 cites W1954855504 @default.
• W2023595527 cites W1955923360 @default.
• W2023595527 cites W1975957761 @default.
• W2023595527 cites W1988346768 @default.
• W2023595527 cites W2007095157 @default.
• W2023595527 cites W2009479752 @default.
• W2023595527 cites W2029061535 @default.
• W2023595527 cites W2029731237 @default.
• W2023595527 cites W2035459039 @default.
• W2023595527 cites W2046632616 @default.
• W2023595527 cites W2059896584 @default.
• W2023595527 cites W2078098781 @default.
• W2023595527 cites W2078477574 @default.
• W2023595527 cites W2098397015 @default.
• W2023595527 cites W2105719984 @default.
• W2023595527 cites W2108508026 @default.
• W2023595527 cites W2121772417 @default.
• W2023595527 cites W2124334570 @default.
• W2023595527 cites W2128128647 @default.
• W2023595527 cites W2128727932 @default.
• W2023595527 cites W2144501589 @default.
• W2023595527 cites W4239404995 @default.
• W2023595527 doi "https://doi.org/10.1007/s10384-009-0769-1" @default.
• W2023595527 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/20151268" @default.
• W2023595527 hasPublicationYear "2010" @default.
• W2023595527 type Work @default.
• W2023595527 sameAs 2023595527 @default.
• W2023595527 citedByCount "12" @default.
• W2023595527 countsByYear W20235955272013 @default.
• W2023595527 countsByYear W20235955272014 @default.
• W2023595527 countsByYear W20235955272015 @default.
• W2023595527 countsByYear W20235955272016 @default.
• W2023595527 countsByYear W20235955272021 @default.
• W2023595527 countsByYear W20235955272023 @default.
• W2023595527 crossrefType "journal-article" @default.
• W2023595527 hasAuthorship W2023595527A5003779897 @default.
• W2023595527 hasAuthorship W2023595527A5006581351 @default.
• W2023595527 hasAuthorship W2023595527A5022621431 @default.
• W2023595527 hasAuthorship W2023595527A5033571681 @default.
• W2023595527 hasAuthorship W2023595527A5043708497 @default.
• W2023595527 hasAuthorship W2023595527A5090433474 @default.
• W2023595527 hasConcept C104317684 @default.
• W2023595527 hasConcept C118487528 @default.
• W2023595527 hasConcept C134018914 @default.
• W2023595527 hasConcept C155701950 @default.
• W2023595527 hasConcept C2778527774 @default.
• W2023595527 hasConcept C2908647359 @default.
• W2023595527 hasConcept C2994225774 @default.
• W2023595527 hasConcept C501734568 @default.
• W2023595527 hasConcept C526171541 @default.
• W2023595527 hasConcept C54355233 @default.
• W2023595527 hasConcept C62231903 @default.
• W2023595527 hasConcept C71924100 @default.
• W2023595527 hasConcept C86803240 @default.
• W2023595527 hasConcept C99454951 @default.
• W2023595527 hasConceptScore W2023595527C104317684 @default.
• W2023595527 hasConceptScore W2023595527C118487528 @default.
• W2023595527 hasConceptScore W2023595527C134018914 @default.
• W2023595527 hasConceptScore W2023595527C155701950 @default.
• W2023595527 hasConceptScore W2023595527C2778527774 @default.
• W2023595527 hasConceptScore W2023595527C2908647359 @default.
• W2023595527 hasConceptScore W2023595527C2994225774 @default.
• W2023595527 hasConceptScore W2023595527C501734568 @default.
• W2023595527 hasConceptScore W2023595527C526171541 @default.
• W2023595527 hasConceptScore W2023595527C54355233 @default.
• W2023595527 hasConceptScore W2023595527C62231903 @default.
• W2023595527 hasConceptScore W2023595527C71924100 @default.
• W2023595527 hasConceptScore W2023595527C86803240 @default.
• W2023595527 hasConceptScore W2023595527C99454951 @default.
• W2023595527 hasIssue "1" @default.
• W2023595527 hasLocation W20235955271 @default.
• W2023595527 hasLocation W20235955272 @default.
• W2023595527 hasOpenAccess W2023595527 @default.
• W2023595527 hasPrimaryLocation W20235955271 @default.
• W2023595527 hasRelatedWork W1895018249 @default.
• W2023595527 hasRelatedWork W2001388371 @default.
• W2023595527 hasRelatedWork W2025762337 @default.
• W2023595527 hasRelatedWork W2043736922 @default.
• W2023595527 hasRelatedWork W2068588654 @default.
• W2023595527 hasRelatedWork W2135257384 @default.
• W2023595527 hasRelatedWork W2157008488 @default.
• W2023595527 hasRelatedWork W2382362179 @default.
• W2023595527 hasRelatedWork W2384774992 @default.
• W2023595527 hasRelatedWork W4315629143 @default.
• W2023595527 hasVolume "54" @default.
• W2023595527 isParatext "false" @default.

• next