FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2172073182> ?p ?o ?g. }

• W2172073182 endingPage "289" @default.
• W2172073182 startingPage "285" @default.
• W2172073182 abstract "Tuberous sclerosis complex is an inherited tumour suppressor syndrome, caused by a mutation in either the TSC1 or TSC2 gene. The disease is characterised by a broad phenotypic spectrum that can include seizures, mental retardation, renal dysfunction, and dermatological abnormalities. The TSC1 gene was recently identified and has 23 exons, spanning 45 kb of genomic DNA, and encoding an 8.6 kb mRNA. After screening all 21 coding exons in our collection of 225 unrelated patients, only 29 small mutations were detected, suggesting that TSC1 mutations are under-represented among TSC patients. Almost all TSC1 mutations were small changes leading to a truncated protein, except for a splice site mutation and two in frame deletions in exon 7 and exon 15. No clear difference was observed in the clinical phenotype of patients with an in frame deletion or a frameshift or nonsense mutation. We found the disease causing mutation in 13% of our unrelated set of TSC patients, with more than half of the mutations clustered in exons 15 and 17, and no obvious under-representation of mutations among sporadic cases. In conclusion, we find no support for a genotype-phenotype correlation for the group of TSC1 patients compared to the overall population of TSC patients." @default.
• W2172073182 created "2016-06-24" @default.
• W2172073182 creator A5015195367 @default.
• W2172073182 creator A5016807086 @default.
• W2172073182 creator A5018210838 @default.
• W2172073182 creator A5022683068 @default.
• W2172073182 creator A5023585572 @default.
• W2172073182 creator A5024693768 @default.
• W2172073182 creator A5027423955 @default.
• W2172073182 creator A5029677862 @default.
• W2172073182 creator A5029875966 @default.
• W2172073182 creator A5057642687 @default.
• W2172073182 creator A5084726213 @default.
• W2172073182 date "1999-04-01" @default.
• W2172073182 modified "2023-09-27" @default.
• W2172073182 title "Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation" @default.
• W2172073182 cites W1559883839 @default.
• W2172073182 cites W1930547966 @default.
• W2172073182 cites W1965999621 @default.
• W2172073182 cites W1968986560 @default.
• W2172073182 cites W1971931044 @default.
• W2172073182 cites W1976282699 @default.
• W2172073182 cites W1978972459 @default.
• W2172073182 cites W1996847747 @default.
• W2172073182 cites W2016888102 @default.
• W2172073182 cites W2028926788 @default.
• W2172073182 cites W2037268137 @default.
• W2172073182 cites W2057060995 @default.
• W2172073182 cites W2057940943 @default.
• W2172073182 cites W2076926699 @default.
• W2172073182 cites W2077146968 @default.
• W2172073182 cites W2078827031 @default.
• W2172073182 cites W2079990039 @default.
• W2172073182 cites W2083268838 @default.
• W2172073182 cites W2085798710 @default.
• W2172073182 cites W2093285018 @default.
• W2172073182 cites W2106642144 @default.
• W2172073182 cites W2118094114 @default.
• W2172073182 cites W2118659567 @default.
• W2172073182 cites W2129071898 @default.
• W2172073182 cites W2139752122 @default.
• W2172073182 cites W2140953597 @default.
• W2172073182 cites W2148563307 @default.
• W2172073182 cites W2152973392 @default.
• W2172073182 cites W2159222066 @default.
• W2172073182 cites W2164484085 @default.
• W2172073182 cites W2171884143 @default.
• W2172073182 cites W2235106477 @default.
• W2172073182 cites W992972027 @default.
• W2172073182 doi "https://doi.org/10.1136/jmg.36.4.285" @default.
• W2172073182 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/1734341" @default.
• W2172073182 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/10227394" @default.
• W2172073182 hasPublicationYear "1999" @default.
• W2172073182 type Work @default.
• W2172073182 sameAs 2172073182 @default.
• W2172073182 citedByCount "95" @default.
• W2172073182 countsByYear W21720731822012 @default.
• W2172073182 countsByYear W21720731822014 @default.
• W2172073182 countsByYear W21720731822015 @default.
• W2172073182 countsByYear W21720731822016 @default.
• W2172073182 countsByYear W21720731822017 @default.
• W2172073182 countsByYear W21720731822018 @default.
• W2172073182 countsByYear W21720731822020 @default.
• W2172073182 countsByYear W21720731822021 @default.
• W2172073182 countsByYear W21720731822022 @default.
• W2172073182 countsByYear W21720731822023 @default.
• W2172073182 crossrefType "journal-article" @default.
• W2172073182 hasAuthorship W2172073182A5015195367 @default.
• W2172073182 hasAuthorship W2172073182A5016807086 @default.
• W2172073182 hasAuthorship W2172073182A5018210838 @default.
• W2172073182 hasAuthorship W2172073182A5022683068 @default.
• W2172073182 hasAuthorship W2172073182A5023585572 @default.
• W2172073182 hasAuthorship W2172073182A5024693768 @default.
• W2172073182 hasAuthorship W2172073182A5027423955 @default.
• W2172073182 hasAuthorship W2172073182A5029677862 @default.
• W2172073182 hasAuthorship W2172073182A5029875966 @default.
• W2172073182 hasAuthorship W2172073182A5057642687 @default.
• W2172073182 hasAuthorship W2172073182A5084726213 @default.
• W2172073182 hasBestOaLocation W21720731821 @default.
• W2172073182 hasConcept C104317684 @default.
• W2172073182 hasConcept C127716648 @default.
• W2172073182 hasConcept C135763542 @default.
• W2172073182 hasConcept C142724271 @default.
• W2172073182 hasConcept C190283241 @default.
• W2172073182 hasConcept C200844832 @default.
• W2172073182 hasConcept C2776773979 @default.
• W2172073182 hasConcept C2778980267 @default.
• W2172073182 hasConcept C2779422105 @default.
• W2172073182 hasConcept C2908647359 @default.
• W2172073182 hasConcept C29906990 @default.
• W2172073182 hasConcept C36823959 @default.
• W2172073182 hasConcept C501734568 @default.
• W2172073182 hasConcept C54355233 @default.
• W2172073182 hasConcept C71924100 @default.
• W2172073182 hasConcept C75563809 @default.
• W2172073182 hasConcept C86554907 @default.
• W2172073182 hasConcept C86803240 @default.
• W2172073182 hasConcept C96777560 @default.

• next