FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2012355377> ?p ?o ?g. }

• W2012355377 endingPage "656" @default.
• W2012355377 startingPage "649" @default.
• W2012355377 abstract "We have studied the GTP-cyclohydrolase 1 (GCH-1) gene in 30 patients with the diagnosis of clinically definite (n = 20) or possible (n = 10) dopa-responsive dystonia (DRD) as well as in a child with atypical phenylketonuria due to complete GCH-1 deficiency. A large number of new heterozygote mutations (seven point mutations, two splice site mutations, and one deletion) as well as a new homozygote mutation in the child with atypical phenylketonuria were detected. In addition, two previously described mutations were found in two other cases. We further extended our investigation of GCH-1 to the 5' and 3' regulatory regions and report the first detection of point mutations in the 5' untranslated region. Demethylation of CpG islands does not appear to be an important causative factor for the GCH-1 mutations in DRD. In addition, we have extended the clinical phenotype of genetically proven DRD to focal dystonia, dystonia with relapsing and remitting course, and DRD with onset in the first week of life. None of our DRD patients without a mutation in GCH-1 had the 3-bp deletion recently detected in DYT1, the causative gene for idiopathic torsion dystonia with linkage to 9q34." @default.
• W2012355377 created "2016-06-24" @default.
• W2012355377 creator A5002796221 @default.
• W2012355377 creator A5004657920 @default.
• W2012355377 creator A5026045963 @default.
• W2012355377 creator A5026621001 @default.
• W2012355377 creator A5033644233 @default.
• W2012355377 creator A5045187784 @default.
• W2012355377 creator A5068582387 @default.
• W2012355377 creator A5081113043 @default.
• W2012355377 date "1998-10-01" @default.
• W2012355377 modified "2023-10-18" @default.
• W2012355377 title "Dopa-responsive dystonia: A clinical and molecular genetic study" @default.
• W2012355377 cites W1849664627 @default.
• W2012355377 cites W1968052043 @default.
• W2012355377 cites W1970325045 @default.
• W2012355377 cites W1984408310 @default.
• W2012355377 cites W1997720284 @default.
• W2012355377 cites W2002505050 @default.
• W2012355377 cites W2008852220 @default.
• W2012355377 cites W2022296156 @default.
• W2012355377 cites W2023726109 @default.
• W2012355377 cites W2028089490 @default.
• W2012355377 cites W2028095634 @default.
• W2012355377 cites W2042956859 @default.
• W2012355377 cites W2045756832 @default.
• W2012355377 cites W2051589554 @default.
• W2012355377 cites W2066627525 @default.
• W2012355377 cites W2072063319 @default.
• W2012355377 cites W2076052683 @default.
• W2012355377 cites W2085810558 @default.
• W2012355377 cites W2090737357 @default.
• W2012355377 cites W2098741795 @default.
• W2012355377 cites W2118582599 @default.
• W2012355377 cites W2143712476 @default.
• W2012355377 cites W2149679392 @default.
• W2012355377 cites W2166304609 @default.
• W2012355377 cites W1989065378 @default.
• W2012355377 doi "https://doi.org/10.1002/ana.410440411" @default.
• W2012355377 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/9778264" @default.
• W2012355377 hasPublicationYear "1998" @default.
• W2012355377 type Work @default.
• W2012355377 sameAs 2012355377 @default.
• W2012355377 citedByCount "115" @default.
• W2012355377 countsByYear W20123553772012 @default.
• W2012355377 countsByYear W20123553772013 @default.
• W2012355377 countsByYear W20123553772014 @default.
• W2012355377 countsByYear W20123553772015 @default.
• W2012355377 countsByYear W20123553772016 @default.
• W2012355377 countsByYear W20123553772017 @default.
• W2012355377 countsByYear W20123553772018 @default.
• W2012355377 countsByYear W20123553772020 @default.
• W2012355377 countsByYear W20123553772021 @default.
• W2012355377 countsByYear W20123553772022 @default.
• W2012355377 crossrefType "journal-article" @default.
• W2012355377 hasAuthorship W2012355377A5002796221 @default.
• W2012355377 hasAuthorship W2012355377A5004657920 @default.
• W2012355377 hasAuthorship W2012355377A5026045963 @default.
• W2012355377 hasAuthorship W2012355377A5026621001 @default.
• W2012355377 hasAuthorship W2012355377A5033644233 @default.
• W2012355377 hasAuthorship W2012355377A5045187784 @default.
• W2012355377 hasAuthorship W2012355377A5068582387 @default.
• W2012355377 hasAuthorship W2012355377A5081113043 @default.
• W2012355377 hasConcept C104317684 @default.
• W2012355377 hasConcept C134018914 @default.
• W2012355377 hasConcept C169760540 @default.
• W2012355377 hasConcept C176944494 @default.
• W2012355377 hasConcept C2775956414 @default.
• W2012355377 hasConcept C2776145790 @default.
• W2012355377 hasConcept C2777622882 @default.
• W2012355377 hasConcept C2778559928 @default.
• W2012355377 hasConcept C501734568 @default.
• W2012355377 hasConcept C519581460 @default.
• W2012355377 hasConcept C54355233 @default.
• W2012355377 hasConcept C86803240 @default.
• W2012355377 hasConceptScore W2012355377C104317684 @default.
• W2012355377 hasConceptScore W2012355377C134018914 @default.
• W2012355377 hasConceptScore W2012355377C169760540 @default.
• W2012355377 hasConceptScore W2012355377C176944494 @default.
• W2012355377 hasConceptScore W2012355377C2775956414 @default.
• W2012355377 hasConceptScore W2012355377C2776145790 @default.
• W2012355377 hasConceptScore W2012355377C2777622882 @default.
• W2012355377 hasConceptScore W2012355377C2778559928 @default.
• W2012355377 hasConceptScore W2012355377C501734568 @default.
• W2012355377 hasConceptScore W2012355377C519581460 @default.
• W2012355377 hasConceptScore W2012355377C54355233 @default.
• W2012355377 hasConceptScore W2012355377C86803240 @default.
• W2012355377 hasIssue "4" @default.
• W2012355377 hasLocation W20123553771 @default.
• W2012355377 hasLocation W20123553772 @default.
• W2012355377 hasOpenAccess W2012355377 @default.
• W2012355377 hasPrimaryLocation W20123553771 @default.
• W2012355377 hasRelatedWork W2009327134 @default.
• W2012355377 hasRelatedWork W2013898166 @default.
• W2012355377 hasRelatedWork W2028961943 @default.
• W2012355377 hasRelatedWork W2031846255 @default.
• W2012355377 hasRelatedWork W2077071290 @default.
• W2012355377 hasRelatedWork W2143712476 @default.

• next