Matches in SemOpenAlex for { <https://semopenalex.org/work/W2040592567> ?p ?o ?g. }
Showing items 1 to 84 of
84
with 100 items per page.
- W2040592567 endingPage "582" @default.
- W2040592567 startingPage "578" @default.
- W2040592567 abstract "We have identified a Coffin-Lowry syndrome pedigree where the disorder is associated with a novel splice site mutation in the RSK2 gene, leading to in-phase skipping of exon 5. Western blot analysis, using an antibody directed against the C-terminus of RSK2, failed to reveal RSK2 in this patient, suggesting strongly that the resulting internally deleted protein is unstable. The mutation was present in the DNA of one affected son and one manifesting daughter but was absent in two asymptomatic daughters, who carry the at-risk haplotype, and in the mother's somatic cell (lymphocyte) DNA. The results are consistent with the mutation arising as a postzygotic event in the mother, who therefore is a germinal mosaic. The application of linked markers to identify the disease allele for conventional genetic counselling would have been misleading in this family. This observation again highlights the importance of precise identification of the disease-causing mutation." @default.
- W2040592567 created "2016-06-24" @default.
- W2040592567 creator A5026932933 @default.
- W2040592567 creator A5061307274 @default.
- W2040592567 creator A5067509943 @default.
- W2040592567 creator A5083348187 @default.
- W2040592567 creator A5084640647 @default.
- W2040592567 creator A5091791851 @default.
- W2040592567 date "1998-11-01" @default.
- W2040592567 modified "2023-10-16" @default.
- W2040592567 title "Germline mosaicism in Coffin-Lowry syndrome" @default.
- W2040592567 cites W1902802634 @default.
- W2040592567 cites W1975394442 @default.
- W2040592567 cites W2000399347 @default.
- W2040592567 cites W2004583463 @default.
- W2040592567 cites W2047206443 @default.
- W2040592567 cites W2050783041 @default.
- W2040592567 cites W2060063694 @default.
- W2040592567 cites W2061941091 @default.
- W2040592567 cites W2064041592 @default.
- W2040592567 cites W2069100646 @default.
- W2040592567 cites W2075101093 @default.
- W2040592567 cites W2075908125 @default.
- W2040592567 cites W2082190322 @default.
- W2040592567 cites W2091068709 @default.
- W2040592567 cites W2091397703 @default.
- W2040592567 cites W2127949109 @default.
- W2040592567 cites W2167021585 @default.
- W2040592567 cites W2887196418 @default.
- W2040592567 doi "https://doi.org/10.1038/sj.ejhg.5200230" @default.
- W2040592567 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/9887375" @default.
- W2040592567 hasPublicationYear "1998" @default.
- W2040592567 type Work @default.
- W2040592567 sameAs 2040592567 @default.
- W2040592567 citedByCount "15" @default.
- W2040592567 countsByYear W20405925672014 @default.
- W2040592567 countsByYear W20405925672016 @default.
- W2040592567 countsByYear W20405925672023 @default.
- W2040592567 crossrefType "journal-article" @default.
- W2040592567 hasAuthorship W2040592567A5026932933 @default.
- W2040592567 hasAuthorship W2040592567A5061307274 @default.
- W2040592567 hasAuthorship W2040592567A5067509943 @default.
- W2040592567 hasAuthorship W2040592567A5083348187 @default.
- W2040592567 hasAuthorship W2040592567A5084640647 @default.
- W2040592567 hasAuthorship W2040592567A5091791851 @default.
- W2040592567 hasBestOaLocation W20405925671 @default.
- W2040592567 hasConcept C104317684 @default.
- W2040592567 hasConcept C180754005 @default.
- W2040592567 hasConcept C197754878 @default.
- W2040592567 hasConcept C36823959 @default.
- W2040592567 hasConcept C48720390 @default.
- W2040592567 hasConcept C501734568 @default.
- W2040592567 hasConcept C54355233 @default.
- W2040592567 hasConcept C86803240 @default.
- W2040592567 hasConceptScore W2040592567C104317684 @default.
- W2040592567 hasConceptScore W2040592567C180754005 @default.
- W2040592567 hasConceptScore W2040592567C197754878 @default.
- W2040592567 hasConceptScore W2040592567C36823959 @default.
- W2040592567 hasConceptScore W2040592567C48720390 @default.
- W2040592567 hasConceptScore W2040592567C501734568 @default.
- W2040592567 hasConceptScore W2040592567C54355233 @default.
- W2040592567 hasConceptScore W2040592567C86803240 @default.
- W2040592567 hasIssue "6" @default.
- W2040592567 hasLocation W20405925671 @default.
- W2040592567 hasLocation W20405925672 @default.
- W2040592567 hasOpenAccess W2040592567 @default.
- W2040592567 hasPrimaryLocation W20405925671 @default.
- W2040592567 hasRelatedWork W1964168685 @default.
- W2040592567 hasRelatedWork W1995266986 @default.
- W2040592567 hasRelatedWork W2023179002 @default.
- W2040592567 hasRelatedWork W2038017527 @default.
- W2040592567 hasRelatedWork W2070224767 @default.
- W2040592567 hasRelatedWork W2076132888 @default.
- W2040592567 hasRelatedWork W2091236339 @default.
- W2040592567 hasRelatedWork W2094635246 @default.
- W2040592567 hasRelatedWork W2388007221 @default.
- W2040592567 hasRelatedWork W4242979853 @default.
- W2040592567 hasVolume "6" @default.
- W2040592567 isParatext "false" @default.
- W2040592567 isRetracted "false" @default.
- W2040592567 magId "2040592567" @default.
- W2040592567 workType "article" @default.