FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1567129973> ?p ?o ?g. }

• W1567129973 endingPage "9354" @default.
• W1567129973 startingPage "9351" @default.
• W1567129973 abstract "Phenylketonuria (PKU) is an autosomal recessive disease due to deficiency of a hepatic enzyme, phenylalanine hydroxylase (PAH). The absence of PAH activity results in typical PKU while persistence of a residual enzyme activity gives rise to variant forms of the disease. We report here a 3-base pair in-frame deletion of the PAH gene (delta 194) in a mild variant, with markedly reduced affinity of the enzyme for phenylalanine (Km = 160 nM), and we provide functional evidence for responsibility of the deletion in the mutant phenotype. Since the deletion was located in the third exon of the gene, which presents no homology with other hydroxylases, we suggest that exon 3 is involved in the specificity of the enzyme for phenylalanine. Finally, since none of the 98 PKU patients tested were found to carry this particular deletion, our study suggests that this molecular event probably occurred recently on the background of a haplotype 2 gene in Portugal." @default.
• W1567129973 created "2016-06-24" @default.
• W1567129973 creator A5005658456 @default.
• W1567129973 creator A5014327776 @default.
• W1567129973 creator A5017874787 @default.
• W1567129973 creator A5021709517 @default.
• W1567129973 creator A5023623446 @default.
• W1567129973 creator A5029002217 @default.
• W1567129973 creator A5036317588 @default.
• W1567129973 creator A5038683948 @default.
• W1567129973 creator A5046598009 @default.
• W1567129973 creator A5047929611 @default.
• W1567129973 date "1991-05-01" @default.
• W1567129973 modified "2023-10-16" @default.
• W1567129973 title "A 3-base pair in-frame deletion of the phenylalanine hydroxylase gene results in a kinetic variant of phenylketonuria" @default.
• W1567129973 cites W1486028184 @default.
• W1567129973 cites W1534631627 @default.
• W1567129973 cites W1621731730 @default.
• W1567129973 cites W1967507598 @default.
• W1567129973 cites W1968086064 @default.
• W1567129973 cites W1981886579 @default.
• W1567129973 cites W1997521650 @default.
• W1567129973 cites W2010519762 @default.
• W1567129973 cites W2014796137 @default.
• W1567129973 cites W2019653417 @default.
• W1567129973 cites W2022963580 @default.
• W1567129973 cites W2035686842 @default.
• W1567129973 cites W2036064499 @default.
• W1567129973 cites W2039599894 @default.
• W1567129973 cites W2041342609 @default.
• W1567129973 cites W2047841615 @default.
• W1567129973 cites W2067406838 @default.
• W1567129973 cites W2077776270 @default.
• W1567129973 cites W2080725178 @default.
• W1567129973 cites W2084059897 @default.
• W1567129973 cites W2089559330 @default.
• W1567129973 cites W2091473456 @default.
• W1567129973 cites W2103131757 @default.
• W1567129973 cites W2120033918 @default.
• W1567129973 cites W2414075949 @default.
• W1567129973 cites W4212984809 @default.
• W1567129973 doi "https://doi.org/10.1016/s0021-9258(18)92824-3" @default.
• W1567129973 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/1709636" @default.
• W1567129973 hasPublicationYear "1991" @default.
• W1567129973 type Work @default.
• W1567129973 sameAs 1567129973 @default.
• W1567129973 citedByCount "21" @default.
• W1567129973 countsByYear W15671299732016 @default.
• W1567129973 countsByYear W15671299732018 @default.
• W1567129973 crossrefType "journal-article" @default.
• W1567129973 hasAuthorship W1567129973A5005658456 @default.
• W1567129973 hasAuthorship W1567129973A5014327776 @default.
• W1567129973 hasAuthorship W1567129973A5017874787 @default.
• W1567129973 hasAuthorship W1567129973A5021709517 @default.
• W1567129973 hasAuthorship W1567129973A5023623446 @default.
• W1567129973 hasAuthorship W1567129973A5029002217 @default.
• W1567129973 hasAuthorship W1567129973A5036317588 @default.
• W1567129973 hasAuthorship W1567129973A5038683948 @default.
• W1567129973 hasAuthorship W1567129973A5046598009 @default.
• W1567129973 hasAuthorship W1567129973A5047929611 @default.
• W1567129973 hasBestOaLocation W15671299731 @default.
• W1567129973 hasConcept C104317684 @default.
• W1567129973 hasConcept C121332964 @default.
• W1567129973 hasConcept C134306372 @default.
• W1567129973 hasConcept C135889238 @default.
• W1567129973 hasConcept C185592680 @default.
• W1567129973 hasConcept C207009774 @default.
• W1567129973 hasConcept C2777431362 @default.
• W1567129973 hasConcept C33923547 @default.
• W1567129973 hasConcept C42058472 @default.
• W1567129973 hasConcept C515207424 @default.
• W1567129973 hasConcept C54355233 @default.
• W1567129973 hasConcept C62520636 @default.
• W1567129973 hasConcept C86803240 @default.
• W1567129973 hasConceptScore W1567129973C104317684 @default.
• W1567129973 hasConceptScore W1567129973C121332964 @default.
• W1567129973 hasConceptScore W1567129973C134306372 @default.
• W1567129973 hasConceptScore W1567129973C135889238 @default.
• W1567129973 hasConceptScore W1567129973C185592680 @default.
• W1567129973 hasConceptScore W1567129973C207009774 @default.
• W1567129973 hasConceptScore W1567129973C2777431362 @default.
• W1567129973 hasConceptScore W1567129973C33923547 @default.
• W1567129973 hasConceptScore W1567129973C42058472 @default.
• W1567129973 hasConceptScore W1567129973C515207424 @default.
• W1567129973 hasConceptScore W1567129973C54355233 @default.
• W1567129973 hasConceptScore W1567129973C62520636 @default.
• W1567129973 hasConceptScore W1567129973C86803240 @default.
• W1567129973 hasIssue "15" @default.
• W1567129973 hasLocation W15671299731 @default.
• W1567129973 hasOpenAccess W1567129973 @default.
• W1567129973 hasPrimaryLocation W15671299731 @default.
• W1567129973 hasRelatedWork W1524236485 @default.
• W1567129973 hasRelatedWork W1994046447 @default.
• W1567129973 hasRelatedWork W2030454832 @default.
• W1567129973 hasRelatedWork W2030601092 @default.
• W1567129973 hasRelatedWork W2045884770 @default.
• W1567129973 hasRelatedWork W2290936292 @default.
• W1567129973 hasRelatedWork W2333102919 @default.

• next