Matches in SemOpenAlex for { <https://semopenalex.org/work/W2040952198> ?p ?o ?g. }
Showing items 1 to 89 of
89
with 100 items per page.
- W2040952198 endingPage "36" @default.
- W2040952198 startingPage "33" @default.
- W2040952198 abstract "Rett syndrome is a progressive neurodevelopmental disorder occurring predominantly in females. Recently, mutations in the MECP2 gene on Xq28, which encodes methyl-CpG binding protein 2, were identified as responsible for some cases of Rett syndrome. In the present study, we analyzed the entire coding sequence of the MECP2 gene in 20 sporadic cases of Rett syndrome in Korea. Of the 20 patients, 14 (70%) had pathogenic mutations, which included 10 different mutations. Altogether, there were five missense mutations (D97Y, L100V, R133C, T158M, R306C), four nonsense mutations (R168X, R255X, R270X, R294X), and one frameshift mutation (a 41-bp deletion at 1157-1197). Two of these were novel mutations (D97Y, L100V). Most of the nucleotide substitutions involved C to T transitions at CpG hotspots. We could find no clear phenotype-genotype correlation according to the type of mutation. However, there was a tendency for patients with no MECP2 mutation (30%) to show more severe symptoms and more rapid clinical progression than patients with mutations. Further studies are necessary to identify the other possible genetic causes of Rett syndrome." @default.
- W2040952198 created "2016-06-24" @default.
- W2040952198 creator A5003858734 @default.
- W2040952198 creator A5031671812 @default.
- W2040952198 creator A5061232003 @default.
- W2040952198 date "2002-01-01" @default.
- W2040952198 modified "2023-10-13" @default.
- W2040952198 title "Mutation Analysis of MECP2 and Clinical Characterization in Korean Patients With Rett Syndrome" @default.
- W2040952198 cites W1559742681 @default.
- W2040952198 cites W1998297242 @default.
- W2040952198 cites W2010463957 @default.
- W2040952198 cites W2011240015 @default.
- W2040952198 cites W2032474463 @default.
- W2040952198 cites W2052584828 @default.
- W2040952198 cites W2057427707 @default.
- W2040952198 cites W2059180147 @default.
- W2040952198 cites W2062138338 @default.
- W2040952198 cites W2062943711 @default.
- W2040952198 cites W2063840478 @default.
- W2040952198 cites W2090051505 @default.
- W2040952198 cites W2105365305 @default.
- W2040952198 cites W2113595463 @default.
- W2040952198 cites W2116163265 @default.
- W2040952198 cites W2118094114 @default.
- W2040952198 cites W2128855322 @default.
- W2040952198 cites W2132165212 @default.
- W2040952198 cites W2163540024 @default.
- W2040952198 cites W4239393537 @default.
- W2040952198 doi "https://doi.org/10.1177/088307380201700108" @default.
- W2040952198 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/11913567" @default.
- W2040952198 hasPublicationYear "2002" @default.
- W2040952198 type Work @default.
- W2040952198 sameAs 2040952198 @default.
- W2040952198 citedByCount "26" @default.
- W2040952198 countsByYear W20409521982012 @default.
- W2040952198 countsByYear W20409521982014 @default.
- W2040952198 countsByYear W20409521982015 @default.
- W2040952198 crossrefType "journal-article" @default.
- W2040952198 hasAuthorship W2040952198A5003858734 @default.
- W2040952198 hasAuthorship W2040952198A5031671812 @default.
- W2040952198 hasAuthorship W2040952198A5061232003 @default.
- W2040952198 hasConcept C104317684 @default.
- W2040952198 hasConcept C127716648 @default.
- W2040952198 hasConcept C163565370 @default.
- W2040952198 hasConcept C2777082864 @default.
- W2040952198 hasConcept C2777543196 @default.
- W2040952198 hasConcept C2778863441 @default.
- W2040952198 hasConcept C2779388368 @default.
- W2040952198 hasConcept C29906990 @default.
- W2040952198 hasConcept C501734568 @default.
- W2040952198 hasConcept C54355233 @default.
- W2040952198 hasConcept C75563809 @default.
- W2040952198 hasConcept C86803240 @default.
- W2040952198 hasConcept C96777560 @default.
- W2040952198 hasConceptScore W2040952198C104317684 @default.
- W2040952198 hasConceptScore W2040952198C127716648 @default.
- W2040952198 hasConceptScore W2040952198C163565370 @default.
- W2040952198 hasConceptScore W2040952198C2777082864 @default.
- W2040952198 hasConceptScore W2040952198C2777543196 @default.
- W2040952198 hasConceptScore W2040952198C2778863441 @default.
- W2040952198 hasConceptScore W2040952198C2779388368 @default.
- W2040952198 hasConceptScore W2040952198C29906990 @default.
- W2040952198 hasConceptScore W2040952198C501734568 @default.
- W2040952198 hasConceptScore W2040952198C54355233 @default.
- W2040952198 hasConceptScore W2040952198C75563809 @default.
- W2040952198 hasConceptScore W2040952198C86803240 @default.
- W2040952198 hasConceptScore W2040952198C96777560 @default.
- W2040952198 hasIssue "1" @default.
- W2040952198 hasLocation W20409521981 @default.
- W2040952198 hasLocation W20409521982 @default.
- W2040952198 hasOpenAccess W2040952198 @default.
- W2040952198 hasPrimaryLocation W20409521981 @default.
- W2040952198 hasRelatedWork W1516841398 @default.
- W2040952198 hasRelatedWork W1897885612 @default.
- W2040952198 hasRelatedWork W2005223902 @default.
- W2040952198 hasRelatedWork W2047895517 @default.
- W2040952198 hasRelatedWork W2062942227 @default.
- W2040952198 hasRelatedWork W2066046774 @default.
- W2040952198 hasRelatedWork W2069466371 @default.
- W2040952198 hasRelatedWork W2617305629 @default.
- W2040952198 hasRelatedWork W2969940987 @default.
- W2040952198 hasRelatedWork W3198350506 @default.
- W2040952198 hasVolume "17" @default.
- W2040952198 isParatext "false" @default.
- W2040952198 isRetracted "false" @default.
- W2040952198 magId "2040952198" @default.
- W2040952198 workType "article" @default.