Matches in SemOpenAlex for { <https://semopenalex.org/work/W103323193> ?p ?o ?g. }
Showing items 1 to 74 of
74
with 100 items per page.
- W103323193 abstract "Classical galactosemia (G/G) is caused by the absence of galactose-1-phosphate uridyl transferase (GALT) activity while the Duarte allele produces partial impairment and a specific biochemical phenotype. Cloning and sequencing of the human GALT gene has enabled the identification of prevalent mutations for both Classical and Duarte alleles. The G allele is caused by a Q188R codon mutation in exon 6 in 70% of a Caucasian population while the D allele is caused by an N134D codon mutation in exon 10. Since the Q188R sequence creates a new Hpa II site and the N314D sequence creates a new Sin I site, it is relatively easy to screen for both mutations by multiplex PCR and restriction digest. Here we describe a method for detection of new mutations producing impaired GALT. Patient DNAs are subjected to SSCP (single strand conformational polymorphism) analysis of their 11 GALT exons. Direct sequencing of the exons targeted by SSCP has revealed many codon changes: IVSC 956 (a splice acceptor site loss), S135L, V151A, E203K, A320T, and Y323D. Two of these codon changes, V151A and S135L, have been confirmed as mutations by finding impaired GALT activity in a yeast expression system. We conclude that molecular screening of GALTmore » DNA will clarify the structural biology of GALT and the pathophysiology of galactosemia.« less" @default.
- W103323193 created "2016-06-24" @default.
- W103323193 creator A5035799189 @default.
- W103323193 creator A5036810359 @default.
- W103323193 creator A5046610032 @default.
- W103323193 date "1994-09-01" @default.
- W103323193 modified "2023-09-22" @default.
- W103323193 title "Molecular screening in galactosemia" @default.
- W103323193 hasPublicationYear "1994" @default.
- W103323193 type Work @default.
- W103323193 sameAs 103323193 @default.
- W103323193 citedByCount "0" @default.
- W103323193 crossrefType "journal-article" @default.
- W103323193 hasAuthorship W103323193A5035799189 @default.
- W103323193 hasAuthorship W103323193A5036810359 @default.
- W103323193 hasAuthorship W103323193A5046610032 @default.
- W103323193 hasConcept C104317684 @default.
- W103323193 hasConcept C129219603 @default.
- W103323193 hasConcept C153911025 @default.
- W103323193 hasConcept C176944494 @default.
- W103323193 hasConcept C180754005 @default.
- W103323193 hasConcept C20580545 @default.
- W103323193 hasConcept C2778173381 @default.
- W103323193 hasConcept C2779274956 @default.
- W103323193 hasConcept C36823959 @default.
- W103323193 hasConcept C501734568 @default.
- W103323193 hasConcept C54355233 @default.
- W103323193 hasConcept C55493867 @default.
- W103323193 hasConcept C75563809 @default.
- W103323193 hasConcept C86803240 @default.
- W103323193 hasConcept C96777560 @default.
- W103323193 hasConceptScore W103323193C104317684 @default.
- W103323193 hasConceptScore W103323193C129219603 @default.
- W103323193 hasConceptScore W103323193C153911025 @default.
- W103323193 hasConceptScore W103323193C176944494 @default.
- W103323193 hasConceptScore W103323193C180754005 @default.
- W103323193 hasConceptScore W103323193C20580545 @default.
- W103323193 hasConceptScore W103323193C2778173381 @default.
- W103323193 hasConceptScore W103323193C2779274956 @default.
- W103323193 hasConceptScore W103323193C36823959 @default.
- W103323193 hasConceptScore W103323193C501734568 @default.
- W103323193 hasConceptScore W103323193C54355233 @default.
- W103323193 hasConceptScore W103323193C55493867 @default.
- W103323193 hasConceptScore W103323193C75563809 @default.
- W103323193 hasConceptScore W103323193C86803240 @default.
- W103323193 hasConceptScore W103323193C96777560 @default.
- W103323193 hasLocation W1033231931 @default.
- W103323193 hasOpenAccess W103323193 @default.
- W103323193 hasPrimaryLocation W1033231931 @default.
- W103323193 hasRelatedWork W1266459132 @default.
- W103323193 hasRelatedWork W1562139967 @default.
- W103323193 hasRelatedWork W1780887781 @default.
- W103323193 hasRelatedWork W1816625926 @default.
- W103323193 hasRelatedWork W1978131266 @default.
- W103323193 hasRelatedWork W2000956084 @default.
- W103323193 hasRelatedWork W2017178824 @default.
- W103323193 hasRelatedWork W2018725247 @default.
- W103323193 hasRelatedWork W2023622273 @default.
- W103323193 hasRelatedWork W2024250212 @default.
- W103323193 hasRelatedWork W2037496511 @default.
- W103323193 hasRelatedWork W2068033214 @default.
- W103323193 hasRelatedWork W2071254108 @default.
- W103323193 hasRelatedWork W2075658895 @default.
- W103323193 hasRelatedWork W2132500002 @default.
- W103323193 hasRelatedWork W2373534053 @default.
- W103323193 hasRelatedWork W2384494069 @default.
- W103323193 hasRelatedWork W2409545636 @default.
- W103323193 hasRelatedWork W269295414 @default.
- W103323193 hasRelatedWork W95581102 @default.
- W103323193 hasVolume "55" @default.
- W103323193 isParatext "false" @default.
- W103323193 isRetracted "false" @default.
- W103323193 magId "103323193" @default.
- W103323193 workType "article" @default.