FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2137528767> ?p ?o ?g. }

• W2137528767 endingPage "128" @default.
• W2137528767 startingPage "123" @default.
• W2137528767 abstract "A study of Bulgarian patients with classical PKU demonstrated that haplotypes 1 and 4 carry a significant number of rare molecular defects resulting from independent mutational events. Differences in mutations associated with these common haplotypes exist even between populations which share a common major PKU mutation. Some amino acid substitutions, previously reported to lead to mild phenylalanine hydroxylase deficiency, were detected in the present study in compound heterozygotes with severe PKU. These findings preclude carrier testing and hyperphenylalaninemia typing by genomic analysis at least in the heterogeneous Bulgarian population." @default.
• W2137528767 created "2016-06-24" @default.
• W2137528767 creator A5009144014 @default.
• W2137528767 creator A5020071129 @default.
• W2137528767 creator A5026509363 @default.
• W2137528767 creator A5035804034 @default.
• W2137528767 creator A5044392873 @default.
• W2137528767 creator A5047135964 @default.
• W2137528767 creator A5058133126 @default.
• W2137528767 creator A5077365057 @default.
• W2137528767 date "2008-06-28" @default.
• W2137528767 modified "2023-09-25" @default.
• W2137528767 title "Heterogeneity of mutations in Bulgarian phenylketonuria haplotype 1 and 4 alleles" @default.
• W2137528767 cites W1968086064 @default.
• W2137528767 cites W1973444894 @default.
• W2137528767 cites W1978110128 @default.
• W2137528767 cites W1979555459 @default.
• W2137528767 cites W1985155995 @default.
• W2137528767 cites W2007809084 @default.
• W2137528767 cites W2011319844 @default.
• W2137528767 cites W2013564956 @default.
• W2137528767 cites W2031763118 @default.
• W2137528767 cites W2037377955 @default.
• W2137528767 cites W2041342609 @default.
• W2137528767 cites W2058114967 @default.
• W2137528767 cites W2069791539 @default.
• W2137528767 cites W2070693764 @default.
• W2137528767 cites W2080725178 @default.
• W2137528767 cites W2082333385 @default.
• W2137528767 cites W2083159429 @default.
• W2137528767 cites W2083623101 @default.
• W2137528767 cites W2098476494 @default.
• W2137528767 doi "https://doi.org/10.1111/j.1399-0004.1992.tb03647.x" @default.
• W2137528767 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/1563085" @default.
• W2137528767 hasPublicationYear "2008" @default.
• W2137528767 type Work @default.
• W2137528767 sameAs 2137528767 @default.
• W2137528767 citedByCount "8" @default.
• W2137528767 crossrefType "journal-article" @default.
• W2137528767 hasAuthorship W2137528767A5009144014 @default.
• W2137528767 hasAuthorship W2137528767A5020071129 @default.
• W2137528767 hasAuthorship W2137528767A5026509363 @default.
• W2137528767 hasAuthorship W2137528767A5035804034 @default.
• W2137528767 hasAuthorship W2137528767A5044392873 @default.
• W2137528767 hasAuthorship W2137528767A5047135964 @default.
• W2137528767 hasAuthorship W2137528767A5058133126 @default.
• W2137528767 hasAuthorship W2137528767A5077365057 @default.
• W2137528767 hasConcept C104317684 @default.
• W2137528767 hasConcept C12125453 @default.
• W2137528767 hasConcept C138885662 @default.
• W2137528767 hasConcept C153471976 @default.
• W2137528767 hasConcept C180754005 @default.
• W2137528767 hasConcept C197754878 @default.
• W2137528767 hasConcept C207009774 @default.
• W2137528767 hasConcept C2777431362 @default.
• W2137528767 hasConcept C2780343019 @default.
• W2137528767 hasConcept C2780968477 @default.
• W2137528767 hasConcept C2908963387 @default.
• W2137528767 hasConcept C41895202 @default.
• W2137528767 hasConcept C501734568 @default.
• W2137528767 hasConcept C515207424 @default.
• W2137528767 hasConcept C54355233 @default.
• W2137528767 hasConcept C86803240 @default.
• W2137528767 hasConceptScore W2137528767C104317684 @default.
• W2137528767 hasConceptScore W2137528767C12125453 @default.
• W2137528767 hasConceptScore W2137528767C138885662 @default.
• W2137528767 hasConceptScore W2137528767C153471976 @default.
• W2137528767 hasConceptScore W2137528767C180754005 @default.
• W2137528767 hasConceptScore W2137528767C197754878 @default.
• W2137528767 hasConceptScore W2137528767C207009774 @default.
• W2137528767 hasConceptScore W2137528767C2777431362 @default.
• W2137528767 hasConceptScore W2137528767C2780343019 @default.
• W2137528767 hasConceptScore W2137528767C2780968477 @default.
• W2137528767 hasConceptScore W2137528767C2908963387 @default.
• W2137528767 hasConceptScore W2137528767C41895202 @default.
• W2137528767 hasConceptScore W2137528767C501734568 @default.
• W2137528767 hasConceptScore W2137528767C515207424 @default.
• W2137528767 hasConceptScore W2137528767C54355233 @default.
• W2137528767 hasConceptScore W2137528767C86803240 @default.
• W2137528767 hasIssue "3" @default.
• W2137528767 hasLocation W21375287671 @default.
• W2137528767 hasLocation W21375287672 @default.
• W2137528767 hasOpenAccess W2137528767 @default.
• W2137528767 hasPrimaryLocation W21375287671 @default.
• W2137528767 hasRelatedWork W122462342 @default.
• W2137528767 hasRelatedWork W1968086064 @default.
• W2137528767 hasRelatedWork W1975253683 @default.
• W2137528767 hasRelatedWork W1990964743 @default.
• W2137528767 hasRelatedWork W2070693764 @default.
• W2137528767 hasRelatedWork W2091852896 @default.
• W2137528767 hasRelatedWork W2137528767 @default.
• W2137528767 hasRelatedWork W2166427030 @default.
• W2137528767 hasRelatedWork W2404781352 @default.
• W2137528767 hasRelatedWork W2411220198 @default.
• W2137528767 hasVolume "41" @default.
• W2137528767 isParatext "false" @default.
• W2137528767 isRetracted "false" @default.
• W2137528767 magId "2137528767" @default.

• next