FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W144164> ?p ?o ?g. }

• W144164 endingPage "37" @default.
• W144164 startingPage "31" @default.
• W144164 abstract "Mutations in the ALDOB gene impair the activity of the hepatic aldolase B enzyme, causing hereditary fructose intolerance (HFI), an inherited autosomic recessive disease of carbohydrate metabolism, that can result in hypoglycemia, liver and kidney failure, coma, and death. Noninvasive diagnosis is possible by identifying mutant ALDOB alleles in suspected patients. We report the genetic characterization of a cohort of 18 HFI Caucasian patients, based on PCR-sequencing and Multiplex Ligation-dependent Probe Amplification (MLPA), with the identification of two novel genetic lesions: a small duplication c.940_941dupT (p.Trp314fsX22) and a large deletion encompassing the promoter region and exon 1. MLPA and long range-PCR (LR-PCR) also identified the recently reported g.7840_14288del6448 allele with a surprisingly high frequency (11%) within our patients' cohort. The most common p.Ala150Pro (44%), p.Ala175Asp (19%), p.Asn335Lys (8%), and/or the known c.360-363del4 (5%), p.Tyr204X (2.8%), IVS6 -2A>G (2.8%) mutant alleles were identified in 14 patients at a homozygous or compound-heterozygous level. The integration of PCR-sequencing analysis with exon-dosage tools [MLPA and quantitative fluorescent multiplex-PCR (QFM-PCR)] led to the full genotyping of patients within our cohort and to the identification of the new deletion encompassing the promoter region and exon 1." @default.
• W144164 created "2016-06-24" @default.
• W144164 creator A5004665891 @default.
• W144164 creator A5009870571 @default.
• W144164 creator A5019171478 @default.
• W144164 creator A5026031054 @default.
• W144164 creator A5039295512 @default.
• W144164 creator A5043046377 @default.
• W144164 creator A5045031480 @default.
• W144164 creator A5045147038 @default.
• W144164 creator A5049463502 @default.
• W144164 creator A5061268491 @default.
• W144164 creator A5076170457 @default.
• W144164 creator A5083680735 @default.
• W144164 date "2012-01-01" @default.
• W144164 modified "2023-10-18" @default.
• W144164 title "Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance" @default.
• W144164 cites W2001121741 @default.
• W144164 cites W2008680170 @default.
• W144164 cites W2035250468 @default.
• W144164 cites W2040481072 @default.
• W144164 cites W2048066594 @default.
• W144164 cites W2052065802 @default.
• W144164 cites W2064860496 @default.
• W144164 cites W2071092703 @default.
• W144164 cites W2087706968 @default.
• W144164 cites W2107154701 @default.
• W144164 cites W2108498987 @default.
• W144164 cites W2116876328 @default.
• W144164 cites W2123763707 @default.
• W144164 cites W2135019358 @default.
• W144164 doi "https://doi.org/10.1007/8904_2012_125" @default.
• W144164 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3565637" @default.
• W144164 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23430936" @default.
• W144164 hasPublicationYear "2012" @default.
• W144164 type Work @default.
• W144164 sameAs 144164 @default.
• W144164 citedByCount "12" @default.
• W144164 countsByYear W1441642013 @default.
• W144164 countsByYear W1441642014 @default.
• W144164 countsByYear W1441642015 @default.
• W144164 countsByYear W1441642016 @default.
• W144164 countsByYear W1441642019 @default.
• W144164 countsByYear W1441642021 @default.
• W144164 crossrefType "book-chapter" @default.
• W144164 hasAuthorship W144164A5004665891 @default.
• W144164 hasAuthorship W144164A5009870571 @default.
• W144164 hasAuthorship W144164A5019171478 @default.
• W144164 hasAuthorship W144164A5026031054 @default.
• W144164 hasAuthorship W144164A5039295512 @default.
• W144164 hasAuthorship W144164A5043046377 @default.
• W144164 hasAuthorship W144164A5045031480 @default.
• W144164 hasAuthorship W144164A5045147038 @default.
• W144164 hasAuthorship W144164A5049463502 @default.
• W144164 hasAuthorship W144164A5061268491 @default.
• W144164 hasAuthorship W144164A5076170457 @default.
• W144164 hasAuthorship W144164A5083680735 @default.
• W144164 hasBestOaLocation W1441642 @default.
• W144164 hasConcept C104317684 @default.
• W144164 hasConcept C120599132 @default.
• W144164 hasConcept C12125453 @default.
• W144164 hasConcept C135763542 @default.
• W144164 hasConcept C153911025 @default.
• W144164 hasConcept C180754005 @default.
• W144164 hasConcept C181199279 @default.
• W144164 hasConcept C184054246 @default.
• W144164 hasConcept C2781188995 @default.
• W144164 hasConcept C28165981 @default.
• W144164 hasConcept C31467283 @default.
• W144164 hasConcept C3488265 @default.
• W144164 hasConcept C36823959 @default.
• W144164 hasConcept C49105822 @default.
• W144164 hasConcept C501734568 @default.
• W144164 hasConcept C54355233 @default.
• W144164 hasConcept C55493867 @default.
• W144164 hasConcept C7602840 @default.
• W144164 hasConcept C76818968 @default.
• W144164 hasConcept C8185291 @default.
• W144164 hasConcept C86803240 @default.
• W144164 hasConcept C90583042 @default.
• W144164 hasConceptScore W144164C104317684 @default.
• W144164 hasConceptScore W144164C120599132 @default.
• W144164 hasConceptScore W144164C12125453 @default.
• W144164 hasConceptScore W144164C135763542 @default.
• W144164 hasConceptScore W144164C153911025 @default.
• W144164 hasConceptScore W144164C180754005 @default.
• W144164 hasConceptScore W144164C181199279 @default.
• W144164 hasConceptScore W144164C184054246 @default.
• W144164 hasConceptScore W144164C2781188995 @default.
• W144164 hasConceptScore W144164C28165981 @default.
• W144164 hasConceptScore W144164C31467283 @default.
• W144164 hasConceptScore W144164C3488265 @default.
• W144164 hasConceptScore W144164C36823959 @default.
• W144164 hasConceptScore W144164C49105822 @default.
• W144164 hasConceptScore W144164C501734568 @default.
• W144164 hasConceptScore W144164C54355233 @default.
• W144164 hasConceptScore W144164C55493867 @default.
• W144164 hasConceptScore W144164C7602840 @default.

• next