FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2000642400> ?p ?o ?g. }

• W2000642400 endingPage "194" @default.
• W2000642400 startingPage "187" @default.
• W2000642400 abstract "Propionic acidaemia (PA) is an autosomal recessive disorder caused by mutations in either of the PCCA or PCCB genes which encode the alpha and beta subunits, respectively, of the mitochondrial enzyme propionyl-CoA carboxylase (PCC). In this work we have examined the biochemical findings and clinical outcome of 37 Spanish PA patients in relation to the mutations found in both PCCA and PCCB genes. We have detected 27 early-onset and 101 late-onset cases, showing remarkably similar biochemical features without relation to either the age of onset of the disease or the defective gene they have. Twenty-one of the patients have so far survived and three of them, now adolescents, present normal development. Different biochemical procedures allowed us to identify the defective gene in 9 PCCA deficient and 28 PCCB deficient patients. Nine putative disease-causing mutations accounting for 77.7% of mutant alleles were identified among PCCA deficient patients, each one carrying a unique genotypic combination. Of PCCB mutant alleles 98% were characterised. Four common mutations (ins/del, E168K, 1170insT and A497V) were found in 38/52 mutant chromosomes investigated, whereas the remainder of the alleles harbour 12 other different mutations. By examining the mutations identified both in PCCA and PCCB genes and the clinical evolution of patients, we have found a good correlation between certain mutations which can be considered as null with a severe phenotype, while certain missense mutations tend to be related to the late and mild forms of the disease. Expression studies, particularly of the missense mutations identified are necessary but other genetic and environmental factors probably contribute to the phenotypic variability observed in PA." @default.
• W2000642400 created "2016-06-24" @default.
• W2000642400 creator A5000819682 @default.
• W2000642400 creator A5001813953 @default.
• W2000642400 creator A5014862423 @default.
• W2000642400 creator A5016641150 @default.
• W2000642400 creator A5021155700 @default.
• W2000642400 creator A5036978313 @default.
• W2000642400 creator A5037663075 @default.
• W2000642400 creator A5039006605 @default.
• W2000642400 creator A5040246496 @default.
• W2000642400 creator A5040530313 @default.
• W2000642400 creator A5041934173 @default.
• W2000642400 creator A5045221196 @default.
• W2000642400 creator A5047969354 @default.
• W2000642400 creator A5058510055 @default.
• W2000642400 creator A5060854252 @default.
• W2000642400 creator A5070729416 @default.
• W2000642400 creator A5071340755 @default.
• W2000642400 creator A5073454124 @default.
• W2000642400 creator A5078416616 @default.
• W2000642400 creator A5084970128 @default.
• W2000642400 creator A5086186527 @default.
• W2000642400 date "2000-03-01" @default.
• W2000642400 modified "2023-10-18" @default.
• W2000642400 title "Potential relationship between genotype and clinical outcome in propionic acidaemia patients" @default.
• W2000642400 cites W1483242733 @default.
• W2000642400 cites W1753431262 @default.
• W2000642400 cites W1845931038 @default.
• W2000642400 cites W1995119630 @default.
• W2000642400 cites W2008474133 @default.
• W2000642400 cites W2017979314 @default.
• W2000642400 cites W2028976991 @default.
• W2000642400 cites W2038068164 @default.
• W2000642400 cites W2052907422 @default.
• W2000642400 cites W2058001832 @default.
• W2000642400 cites W2060866459 @default.
• W2000642400 cites W2067483328 @default.
• W2000642400 cites W2067669682 @default.
• W2000642400 cites W2134812217 @default.
• W2000642400 cites W2151806683 @default.
• W2000642400 cites W2158155220 @default.
• W2000642400 cites W2167112977 @default.
• W2000642400 cites W2921459128 @default.
• W2000642400 cites W83914574 @default.
• W2000642400 cites W1018387574 @default.
• W2000642400 doi "https://doi.org/10.1038/sj.ejhg.5200442" @default.
• W2000642400 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/10780784" @default.
• W2000642400 hasPublicationYear "2000" @default.
• W2000642400 type Work @default.
• W2000642400 sameAs 2000642400 @default.
• W2000642400 citedByCount "57" @default.
• W2000642400 countsByYear W20006424002012 @default.
• W2000642400 countsByYear W20006424002013 @default.
• W2000642400 countsByYear W20006424002014 @default.
• W2000642400 countsByYear W20006424002015 @default.
• W2000642400 countsByYear W20006424002016 @default.
• W2000642400 countsByYear W20006424002017 @default.
• W2000642400 countsByYear W20006424002018 @default.
• W2000642400 countsByYear W20006424002019 @default.
• W2000642400 countsByYear W20006424002020 @default.
• W2000642400 countsByYear W20006424002021 @default.
• W2000642400 countsByYear W20006424002022 @default.
• W2000642400 countsByYear W20006424002023 @default.
• W2000642400 crossrefType "journal-article" @default.
• W2000642400 hasAuthorship W2000642400A5000819682 @default.
• W2000642400 hasAuthorship W2000642400A5001813953 @default.
• W2000642400 hasAuthorship W2000642400A5014862423 @default.
• W2000642400 hasAuthorship W2000642400A5016641150 @default.
• W2000642400 hasAuthorship W2000642400A5021155700 @default.
• W2000642400 hasAuthorship W2000642400A5036978313 @default.
• W2000642400 hasAuthorship W2000642400A5037663075 @default.
• W2000642400 hasAuthorship W2000642400A5039006605 @default.
• W2000642400 hasAuthorship W2000642400A5040246496 @default.
• W2000642400 hasAuthorship W2000642400A5040530313 @default.
• W2000642400 hasAuthorship W2000642400A5041934173 @default.
• W2000642400 hasAuthorship W2000642400A5045221196 @default.
• W2000642400 hasAuthorship W2000642400A5047969354 @default.
• W2000642400 hasAuthorship W2000642400A5058510055 @default.
• W2000642400 hasAuthorship W2000642400A5060854252 @default.
• W2000642400 hasAuthorship W2000642400A5070729416 @default.
• W2000642400 hasAuthorship W2000642400A5071340755 @default.
• W2000642400 hasAuthorship W2000642400A5073454124 @default.
• W2000642400 hasAuthorship W2000642400A5078416616 @default.
• W2000642400 hasAuthorship W2000642400A5084970128 @default.
• W2000642400 hasAuthorship W2000642400A5086186527 @default.
• W2000642400 hasBestOaLocation W20006424001 @default.
• W2000642400 hasConcept C104317684 @default.
• W2000642400 hasConcept C126322002 @default.
• W2000642400 hasConcept C127716648 @default.
• W2000642400 hasConcept C134018914 @default.
• W2000642400 hasConcept C135763542 @default.
• W2000642400 hasConcept C143065580 @default.
• W2000642400 hasConcept C180754005 @default.
• W2000642400 hasConcept C2779134260 @default.
• W2000642400 hasConcept C2779488543 @default.
• W2000642400 hasConcept C501734568 @default.
• W2000642400 hasConcept C54355233 @default.

• next