FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1657908892> ?p ?o ?g. }

• W1657908892 endingPage "11367" @default.
• W1657908892 startingPage "11361" @default.
• W1657908892 abstract "Citrullinemia is an autosomal recessive disease caused by deficiency of argininosuccinate synthetase. In order to characterize mutations, RNA was isolated from cultured fibroblasts from 13 unrelated patients with neonatal citrullinemia. Ten mutations were identified by sequencing of amplified cDNA. Seven single base missense mutations were identified: Gly14----Ser, Ser180----Asn, Arg157----His, Arg304----Trp, Gly324----Ser, Arg363----Trp, and Gly390----Arg. Six of these missense mutations involved conversion of a CpG dinucleotide in the sense strand to TpG or CpA, and six of the seven mutations alter a restriction enzyme site in the cDNA. Two mutations were observed in which the sequences encoded by a single exon (exon 7 or 13) were absent from the cDNA. One mutation is a G----C substitution in the last position of intron 15 resulting in splicing to a cryptic splice site within exon 16. There is extreme heterogeneity of mutations causing citrulinemia. This heterogeneity may prove typical for less common autosomal recessive human genetic diseases." @default.
• W1657908892 created "2016-06-24" @default.
• W1657908892 creator A5015013761 @default.
• W1657908892 creator A5030900858 @default.
• W1657908892 creator A5042580582 @default.
• W1657908892 creator A5074963804 @default.
• W1657908892 creator A5075334923 @default.
• W1657908892 date "1990-07-01" @default.
• W1657908892 modified "2023-09-27" @default.
• W1657908892 title "Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia." @default.
• W1657908892 cites W124504601 @default.
• W1657908892 cites W1480625907 @default.
• W1657908892 cites W1528272726 @default.
• W1657908892 cites W1564788673 @default.
• W1657908892 cites W1601687245 @default.
• W1657908892 cites W1956908301 @default.
• W1657908892 cites W1974676728 @default.
• W1657908892 cites W1984174651 @default.
• W1657908892 cites W1986285874 @default.
• W1657908892 cites W1998994409 @default.
• W1657908892 cites W2000026908 @default.
• W1657908892 cites W2005351227 @default.
• W1657908892 cites W2006901072 @default.
• W1657908892 cites W2006964394 @default.
• W1657908892 cites W2014689788 @default.
• W1657908892 cites W2019759734 @default.
• W1657908892 cites W2032118018 @default.
• W1657908892 cites W2036127298 @default.
• W1657908892 cites W2044051743 @default.
• W1657908892 cites W2053418558 @default.
• W1657908892 cites W2060333964 @default.
• W1657908892 cites W2060842601 @default.
• W1657908892 cites W2061325032 @default.
• W1657908892 cites W2062857583 @default.
• W1657908892 cites W2064109032 @default.
• W1657908892 cites W2067036357 @default.
• W1657908892 cites W2073693990 @default.
• W1657908892 cites W2077379637 @default.
• W1657908892 cites W2078097266 @default.
• W1657908892 cites W2080151091 @default.
• W1657908892 cites W2084459566 @default.
• W1657908892 cites W2092765135 @default.
• W1657908892 cites W2113521501 @default.
• W1657908892 cites W2116876328 @default.
• W1657908892 cites W2125391335 @default.
• W1657908892 cites W2126327165 @default.
• W1657908892 cites W2132169293 @default.
• W1657908892 cites W2150280116 @default.
• W1657908892 cites W2152521307 @default.
• W1657908892 cites W2175413019 @default.
• W1657908892 cites W2327295182 @default.
• W1657908892 cites W4294216491 @default.
• W1657908892 doi "https://doi.org/10.1016/s0021-9258(19)38601-6" @default.
• W1657908892 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/2358466" @default.
• W1657908892 hasPublicationYear "1990" @default.
• W1657908892 type Work @default.
• W1657908892 sameAs 1657908892 @default.
• W1657908892 citedByCount "82" @default.
• W1657908892 countsByYear W16579088922012 @default.
• W1657908892 countsByYear W16579088922013 @default.
• W1657908892 countsByYear W16579088922014 @default.
• W1657908892 countsByYear W16579088922017 @default.
• W1657908892 countsByYear W16579088922018 @default.
• W1657908892 countsByYear W16579088922019 @default.
• W1657908892 countsByYear W16579088922020 @default.
• W1657908892 countsByYear W16579088922021 @default.
• W1657908892 crossrefType "journal-article" @default.
• W1657908892 hasAuthorship W1657908892A5015013761 @default.
• W1657908892 hasAuthorship W1657908892A5030900858 @default.
• W1657908892 hasAuthorship W1657908892A5042580582 @default.
• W1657908892 hasAuthorship W1657908892A5074963804 @default.
• W1657908892 hasAuthorship W1657908892A5075334923 @default.
• W1657908892 hasBestOaLocation W16579088921 @default.
• W1657908892 hasConcept C104317684 @default.
• W1657908892 hasConcept C164007495 @default.
• W1657908892 hasConcept C188610204 @default.
• W1657908892 hasConcept C2777468819 @default.
• W1657908892 hasConcept C2777535116 @default.
• W1657908892 hasConcept C501734568 @default.
• W1657908892 hasConcept C515207424 @default.
• W1657908892 hasConcept C54355233 @default.
• W1657908892 hasConcept C77061444 @default.
• W1657908892 hasConcept C86803240 @default.
• W1657908892 hasConceptScore W1657908892C104317684 @default.
• W1657908892 hasConceptScore W1657908892C164007495 @default.
• W1657908892 hasConceptScore W1657908892C188610204 @default.
• W1657908892 hasConceptScore W1657908892C2777468819 @default.
• W1657908892 hasConceptScore W1657908892C2777535116 @default.
• W1657908892 hasConceptScore W1657908892C501734568 @default.
• W1657908892 hasConceptScore W1657908892C515207424 @default.
• W1657908892 hasConceptScore W1657908892C54355233 @default.
• W1657908892 hasConceptScore W1657908892C77061444 @default.
• W1657908892 hasConceptScore W1657908892C86803240 @default.
• W1657908892 hasIssue "19" @default.
• W1657908892 hasLocation W16579088921 @default.
• W1657908892 hasOpenAccess W1657908892 @default.
• W1657908892 hasPrimaryLocation W16579088921 @default.
• W1657908892 hasRelatedWork W1650990076 @default.

• next