FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2000566376> ?p ?o ?g. }

• W2000566376 endingPage "212" @default.
• W2000566376 startingPage "208" @default.
• W2000566376 abstract "Hypotrichosis with juvenile macular dystrophy (HJMD; OMIM 601553) is a rare autosomal recessive disorder characterized by hypotrichosis with short scalp hair and progressive macular dystrophy leading to blindness between the second and the fourth decades of life. HJMD is caused by mutations in the P-cadherin gene (CDH3), a member of the family of classical cadherins.We analyzed the DNA from members of 2 consanguineous Pakistani families with HJMD for mutations in the P-cadherin gene through direct sequencing.We identified 2 splice site mutations in the P-cadherin gene in these families. One was a novel mutation, Ivs12-2A-->G and the other a recurrent mutation, Ivs10-1G-->T. A screening assay for the novel mutation ruled out the possibility of a polymorphism. Using haplotype analysis, we determined that the mutation, Ivs10-1G-->T, is a founder mutation in the Pakistani population.We identified 2 splice site mutations in the CDH3 gene leading to HJMD, further enriching our understanding of HJMD versus ectodermal dysplasia, ectrodactyly and macular dystrophy syndrome." @default.
• W2000566376 created "2016-06-24" @default.
• W2000566376 creator A5044490713 @default.
• W2000566376 creator A5055835455 @default.
• W2000566376 creator A5063392694 @default.
• W2000566376 creator A5067945922 @default.
• W2000566376 date "2010-01-01" @default.
• W2000566376 modified "2023-09-27" @default.
• W2000566376 title "Splice Site Mutations in the P-Cadherin Gene Underlie Hypotrichosis with Juvenile Macular Dystrophy" @default.
• W2000566376 cites W1517916845 @default.
• W2000566376 cites W1980513503 @default.
• W2000566376 cites W1991469313 @default.
• W2000566376 cites W2003636838 @default.
• W2000566376 cites W2004519386 @default.
• W2000566376 cites W2006658037 @default.
• W2000566376 cites W2010098391 @default.
• W2000566376 cites W2017807559 @default.
• W2000566376 cites W2020709644 @default.
• W2000566376 cites W2021443187 @default.
• W2000566376 cites W2074951823 @default.
• W2000566376 cites W2082056536 @default.
• W2000566376 cites W2116239421 @default.
• W2000566376 cites W2139781265 @default.
• W2000566376 cites W2141834663 @default.
• W2000566376 cites W2154473845 @default.
• W2000566376 cites W2156115398 @default.
• W2000566376 cites W2162680872 @default.
• W2000566376 cites W2266492038 @default.
• W2000566376 doi "https://doi.org/10.1159/000275673" @default.
• W2000566376 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/2865484" @default.
• W2000566376 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/20203473" @default.
• W2000566376 hasPublicationYear "2010" @default.
• W2000566376 type Work @default.
• W2000566376 sameAs 2000566376 @default.
• W2000566376 citedByCount "19" @default.
• W2000566376 countsByYear W20005663762012 @default.
• W2000566376 countsByYear W20005663762013 @default.
• W2000566376 countsByYear W20005663762014 @default.
• W2000566376 countsByYear W20005663762015 @default.
• W2000566376 countsByYear W20005663762016 @default.
• W2000566376 countsByYear W20005663762017 @default.
• W2000566376 countsByYear W20005663762019 @default.
• W2000566376 countsByYear W20005663762022 @default.
• W2000566376 crossrefType "journal-article" @default.
• W2000566376 hasAuthorship W2000566376A5044490713 @default.
• W2000566376 hasAuthorship W2000566376A5055835455 @default.
• W2000566376 hasAuthorship W2000566376A5063392694 @default.
• W2000566376 hasAuthorship W2000566376A5067945922 @default.
• W2000566376 hasBestOaLocation W20005663761 @default.
• W2000566376 hasConcept C104317684 @default.
• W2000566376 hasConcept C135763542 @default.
• W2000566376 hasConcept C194583182 @default.
• W2000566376 hasConcept C197754878 @default.
• W2000566376 hasConcept C2776790153 @default.
• W2000566376 hasConcept C2777017193 @default.
• W2000566376 hasConcept C2777304866 @default.
• W2000566376 hasConcept C2778102086 @default.
• W2000566376 hasConcept C2908795567 @default.
• W2000566376 hasConcept C36823959 @default.
• W2000566376 hasConcept C501734568 @default.
• W2000566376 hasConcept C54355233 @default.
• W2000566376 hasConcept C62257209 @default.
• W2000566376 hasConcept C75563809 @default.
• W2000566376 hasConcept C86803240 @default.
• W2000566376 hasConcept C96777560 @default.
• W2000566376 hasConceptScore W2000566376C104317684 @default.
• W2000566376 hasConceptScore W2000566376C135763542 @default.
• W2000566376 hasConceptScore W2000566376C194583182 @default.
• W2000566376 hasConceptScore W2000566376C197754878 @default.
• W2000566376 hasConceptScore W2000566376C2776790153 @default.
• W2000566376 hasConceptScore W2000566376C2777017193 @default.
• W2000566376 hasConceptScore W2000566376C2777304866 @default.
• W2000566376 hasConceptScore W2000566376C2778102086 @default.
• W2000566376 hasConceptScore W2000566376C2908795567 @default.
• W2000566376 hasConceptScore W2000566376C36823959 @default.
• W2000566376 hasConceptScore W2000566376C501734568 @default.
• W2000566376 hasConceptScore W2000566376C54355233 @default.
• W2000566376 hasConceptScore W2000566376C62257209 @default.
• W2000566376 hasConceptScore W2000566376C75563809 @default.
• W2000566376 hasConceptScore W2000566376C86803240 @default.
• W2000566376 hasConceptScore W2000566376C96777560 @default.
• W2000566376 hasIssue "3" @default.
• W2000566376 hasLocation W20005663761 @default.
• W2000566376 hasLocation W20005663762 @default.
• W2000566376 hasLocation W20005663763 @default.
• W2000566376 hasLocation W20005663764 @default.
• W2000566376 hasOpenAccess W2000566376 @default.
• W2000566376 hasPrimaryLocation W20005663761 @default.
• W2000566376 hasRelatedWork W1851998043 @default.
• W2000566376 hasRelatedWork W1986127851 @default.
• W2000566376 hasRelatedWork W2000566376 @default.
• W2000566376 hasRelatedWork W2006658037 @default.
• W2000566376 hasRelatedWork W2063713448 @default.
• W2000566376 hasRelatedWork W2071469560 @default.
• W2000566376 hasRelatedWork W2146433281 @default.
• W2000566376 hasRelatedWork W2569616788 @default.
• W2000566376 hasRelatedWork W2592027067 @default.
• W2000566376 hasRelatedWork W80739611 @default.

• next