FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2024700946> ?p ?o ?g. }

• W2024700946 endingPage "2532" @default.
• W2024700946 startingPage "2527" @default.
• W2024700946 abstract "Lamellar ichthyosis (LI, MIM# 242300) is a severe autosomal recessive genodermatosis present at birth in the form of collodion membrane covering the neonate. Mutations in the TGM1 gene encoding transglutaminase-1 are a major cause of LI. In this study molecular analysis of two LI Tunisian patients revealed a common nonsense c.788G>A mutation in TGM1 gene. The identification of a cluster of LI pedigrees carrying the c.788G>A mutation in a specific area raises the question of the origin of this mutation from a common ancestor. We carried out a haplotype-based analysis by way of genotyping 4 microsatellite markers and 8 SNPs flanking and within the TGM1 gene spanning a region of 6 Mb. Haplotype reconstruction from genotypes of all members of the affected pedigrees indicated that all carriers for the mutation c.788G>A harbored the same haplotype, indicating common ancestor. The finding of a founder effect in a rare disease is essential for the genetic diagnosis and the genetic counselling of affected LI pedigrees in Tunisia." @default.
• W2024700946 created "2016-06-24" @default.
• W2024700946 creator A5007247523 @default.
• W2024700946 creator A5007364168 @default.
• W2024700946 creator A5008439395 @default.
• W2024700946 creator A5015713644 @default.
• W2024700946 creator A5034759995 @default.
• W2024700946 creator A5064911343 @default.
• W2024700946 creator A5087730563 @default.
• W2024700946 date "2012-11-29" @default.
• W2024700946 modified "2023-10-15" @default.
• W2024700946 title "Congenital lamellar ichthyosis in Tunisia is caused by a founder nonsense mutation in the TGM1 gene" @default.
• W2024700946 cites W1482068187 @default.
• W2024700946 cites W1589310539 @default.
• W2024700946 cites W1617939106 @default.
• W2024700946 cites W1969033833 @default.
• W2024700946 cites W1975988029 @default.
• W2024700946 cites W1980717057 @default.
• W2024700946 cites W1997333790 @default.
• W2024700946 cites W2001131847 @default.
• W2024700946 cites W2001743845 @default.
• W2024700946 cites W2007943616 @default.
• W2024700946 cites W2008605877 @default.
• W2024700946 cites W2011463323 @default.
• W2024700946 cites W2024039709 @default.
• W2024700946 cites W2043861656 @default.
• W2024700946 cites W2046769561 @default.
• W2024700946 cites W2051468712 @default.
• W2024700946 cites W2052522043 @default.
• W2024700946 cites W2086527897 @default.
• W2024700946 cites W2088131585 @default.
• W2024700946 cites W2106170890 @default.
• W2024700946 cites W2119155691 @default.
• W2024700946 cites W2132599853 @default.
• W2024700946 cites W2133964523 @default.
• W2024700946 cites W2153433704 @default.
• W2024700946 cites W2158531928 @default.
• W2024700946 cites W2161148238 @default.
• W2024700946 cites W2161806306 @default.
• W2024700946 cites W2165167843 @default.
• W2024700946 cites W2277421553 @default.
• W2024700946 doi "https://doi.org/10.1007/s11033-012-2333-1" @default.
• W2024700946 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3563951" @default.
• W2024700946 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23192619" @default.
• W2024700946 hasPublicationYear "2012" @default.
• W2024700946 type Work @default.
• W2024700946 sameAs 2024700946 @default.
• W2024700946 citedByCount "11" @default.
• W2024700946 countsByYear W20247009462014 @default.
• W2024700946 countsByYear W20247009462015 @default.
• W2024700946 countsByYear W20247009462017 @default.
• W2024700946 countsByYear W20247009462018 @default.
• W2024700946 countsByYear W20247009462019 @default.
• W2024700946 countsByYear W20247009462020 @default.
• W2024700946 countsByYear W20247009462022 @default.
• W2024700946 countsByYear W20247009462023 @default.
• W2024700946 crossrefType "journal-article" @default.
• W2024700946 hasAuthorship W2024700946A5007247523 @default.
• W2024700946 hasAuthorship W2024700946A5007364168 @default.
• W2024700946 hasAuthorship W2024700946A5008439395 @default.
• W2024700946 hasAuthorship W2024700946A5015713644 @default.
• W2024700946 hasAuthorship W2024700946A5034759995 @default.
• W2024700946 hasAuthorship W2024700946A5064911343 @default.
• W2024700946 hasAuthorship W2024700946A5087730563 @default.
• W2024700946 hasBestOaLocation W20247009461 @default.
• W2024700946 hasConcept C104317684 @default.
• W2024700946 hasConcept C12125453 @default.
• W2024700946 hasConcept C135763542 @default.
• W2024700946 hasConcept C195054827 @default.
• W2024700946 hasConcept C197754878 @default.
• W2024700946 hasConcept C22593422 @default.
• W2024700946 hasConcept C2776292323 @default.
• W2024700946 hasConcept C2778156654 @default.
• W2024700946 hasConcept C2779483664 @default.
• W2024700946 hasConcept C501734568 @default.
• W2024700946 hasConcept C54355233 @default.
• W2024700946 hasConcept C75563809 @default.
• W2024700946 hasConcept C86803240 @default.
• W2024700946 hasConcept C96777560 @default.
• W2024700946 hasConceptScore W2024700946C104317684 @default.
• W2024700946 hasConceptScore W2024700946C12125453 @default.
• W2024700946 hasConceptScore W2024700946C135763542 @default.
• W2024700946 hasConceptScore W2024700946C195054827 @default.
• W2024700946 hasConceptScore W2024700946C197754878 @default.
• W2024700946 hasConceptScore W2024700946C22593422 @default.
• W2024700946 hasConceptScore W2024700946C2776292323 @default.
• W2024700946 hasConceptScore W2024700946C2778156654 @default.
• W2024700946 hasConceptScore W2024700946C2779483664 @default.
• W2024700946 hasConceptScore W2024700946C501734568 @default.
• W2024700946 hasConceptScore W2024700946C54355233 @default.
• W2024700946 hasConceptScore W2024700946C75563809 @default.
• W2024700946 hasConceptScore W2024700946C86803240 @default.
• W2024700946 hasConceptScore W2024700946C96777560 @default.
• W2024700946 hasIssue "3" @default.
• W2024700946 hasLocation W20247009461 @default.
• W2024700946 hasLocation W20247009462 @default.
• W2024700946 hasLocation W20247009463 @default.
• W2024700946 hasLocation W20247009464 @default.

• next