FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2003124452> ?p ?o ?g. }

• W2003124452 endingPage "1441" @default.
• W2003124452 startingPage "1436" @default.
• W2003124452 abstract "purpose. To identify the genetic defect leading to the congenital nuclear cataract affecting a large five-generation Swiss family. methods. Family history and clinical data were recorded. The phenotype was documented by both slit lamp and Scheimpflug photography. One cortical lens was evaluated by electron microscopy after cataract extraction. Lenticular phenotyping and genotyping were performed independently with short tandem repeat polymorphism. Linkage analysis was performed, and candidate genes were PCR amplified and screened for mutations on both strands using direct sequencing. results. Affected individuals had a congenital nuclear lactescent cataract in both eyes. Linkage was observed on chromosome 17 for DNA marker D17S1857 (lod score: 3.44 at θ = 0). Direct sequencing of CRYBA3/A1, which maps to the vicinity, revealed an in-frame 3-bp deletion in exon 4 (279delGAG). This mutation involved a deletion of glycine-91, cosegregated in all affected individuals, and was not observed in unaffected individuals or in 250 normal control subjects from the same ethnic background. Electron microscopy showed that cortical lens fiber morphology was normal. conclusions. The ΔG91 mutation in CRYBA3/A1 is associated with an autosomal dominant congenital nuclear lactescent cataract. A splice mutation (IVS3+1G/A) in this gene has been reported in a zonular cataract with sutural opacities. These results indicate phenotypic heterogeneity related to mutations in this gene." @default.
• W2003124452 created "2016-06-24" @default.
• W2003124452 creator A5001752549 @default.
• W2003124452 creator A5009716617 @default.
• W2003124452 creator A5031901334 @default.
• W2003124452 creator A5039894184 @default.
• W2003124452 creator A5086070782 @default.
• W2003124452 creator A5088281221 @default.
• W2003124452 date "2004-05-01" @default.
• W2003124452 modified "2023-10-10" @default.
• W2003124452 title "CRYBA3/A1 Gene Mutation Associated with Suture-Sparing Autosomal Dominant Congenital Nuclear Cataract: A Novel Phenotype" @default.
• W2003124452 cites W127935123 @default.
• W2003124452 cites W1490241380 @default.
• W2003124452 cites W1514650180 @default.
• W2003124452 cites W1539653122 @default.
• W2003124452 cites W1559579726 @default.
• W2003124452 cites W1964924140 @default.
• W2003124452 cites W1965680787 @default.
• W2003124452 cites W1977743395 @default.
• W2003124452 cites W2004617457 @default.
• W2003124452 cites W2005060593 @default.
• W2003124452 cites W2008726342 @default.
• W2003124452 cites W2009473081 @default.
• W2003124452 cites W2012175638 @default.
• W2003124452 cites W2013344195 @default.
• W2003124452 cites W2018330291 @default.
• W2003124452 cites W2027914626 @default.
• W2003124452 cites W2036114391 @default.
• W2003124452 cites W2036848072 @default.
• W2003124452 cites W2037224031 @default.
• W2003124452 cites W2038156255 @default.
• W2003124452 cites W2040743789 @default.
• W2003124452 cites W2051086233 @default.
• W2003124452 cites W2057033170 @default.
• W2003124452 cites W2058203258 @default.
• W2003124452 cites W2065150985 @default.
• W2003124452 cites W2070571056 @default.
• W2003124452 cites W2089026017 @default.
• W2003124452 cites W2089121014 @default.
• W2003124452 cites W2113461670 @default.
• W2003124452 cites W2115644880 @default.
• W2003124452 cites W2118094114 @default.
• W2003124452 cites W2125424810 @default.
• W2003124452 cites W2140107851 @default.
• W2003124452 cites W2143624016 @default.
• W2003124452 cites W2152436833 @default.
• W2003124452 cites W2163934074 @default.
• W2003124452 cites W2170444891 @default.
• W2003124452 cites W2187463148 @default.
• W2003124452 cites W2412704924 @default.
• W2003124452 cites W24846017 @default.
• W2003124452 cites W69243547 @default.
• W2003124452 doi "https://doi.org/10.1167/iovs.03-0760" @default.
• W2003124452 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/15111599" @default.
• W2003124452 hasPublicationYear "2004" @default.
• W2003124452 type Work @default.
• W2003124452 sameAs 2003124452 @default.
• W2003124452 citedByCount "45" @default.
• W2003124452 countsByYear W20031244522012 @default.
• W2003124452 countsByYear W20031244522013 @default.
• W2003124452 countsByYear W20031244522014 @default.
• W2003124452 countsByYear W20031244522015 @default.
• W2003124452 countsByYear W20031244522016 @default.
• W2003124452 countsByYear W20031244522017 @default.
• W2003124452 countsByYear W20031244522018 @default.
• W2003124452 countsByYear W20031244522019 @default.
• W2003124452 countsByYear W20031244522021 @default.
• W2003124452 countsByYear W20031244522023 @default.
• W2003124452 crossrefType "journal-article" @default.
• W2003124452 hasAuthorship W2003124452A5001752549 @default.
• W2003124452 hasAuthorship W2003124452A5009716617 @default.
• W2003124452 hasAuthorship W2003124452A5031901334 @default.
• W2003124452 hasAuthorship W2003124452A5039894184 @default.
• W2003124452 hasAuthorship W2003124452A5086070782 @default.
• W2003124452 hasAuthorship W2003124452A5088281221 @default.
• W2003124452 hasBestOaLocation W20031244521 @default.
• W2003124452 hasConcept C104317684 @default.
• W2003124452 hasConcept C127716648 @default.
• W2003124452 hasConcept C135763542 @default.
• W2003124452 hasConcept C142870003 @default.
• W2003124452 hasConcept C153911025 @default.
• W2003124452 hasConcept C2780225610 @default.
• W2003124452 hasConcept C2909221355 @default.
• W2003124452 hasConcept C31467283 @default.
• W2003124452 hasConcept C36823959 @default.
• W2003124452 hasConcept C501734568 @default.
• W2003124452 hasConcept C54355233 @default.
• W2003124452 hasConcept C86803240 @default.
• W2003124452 hasConceptScore W2003124452C104317684 @default.
• W2003124452 hasConceptScore W2003124452C127716648 @default.
• W2003124452 hasConceptScore W2003124452C135763542 @default.
• W2003124452 hasConceptScore W2003124452C142870003 @default.
• W2003124452 hasConceptScore W2003124452C153911025 @default.
• W2003124452 hasConceptScore W2003124452C2780225610 @default.
• W2003124452 hasConceptScore W2003124452C2909221355 @default.
• W2003124452 hasConceptScore W2003124452C31467283 @default.
• W2003124452 hasConceptScore W2003124452C36823959 @default.
• W2003124452 hasConceptScore W2003124452C501734568 @default.

• next