FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2034668175> ?p ?o ?g. }

• W2034668175 endingPage "59" @default.
• W2034668175 startingPage "52" @default.
• W2034668175 abstract "Fanconi anaemia (FA) is a genetically heterogeneous autosomal recessive disorder associated with chromosomal fragility, bone-marrow failure, congenital abnormalities and cancer. The gene for complementation group A (FAA), which accounts for 60-65% of all cases, has been cloned, and is composed of an open reading frame of 4.3 kb, which is distributed among 43 exons. We have investigated the molecular pathology of FA by screening the FAA gene for mutations in a panel of 90 patients identified by the European FA research group, EUFAR. A highly heterogeneous spectrum of mutations was identified, with 31 different mutations being detected in 34 patients. The mutations were scattered throughout the gene, and most are likely to result in the absence of the FAA protein. A surprisingly high frequency of intragenic deletions was detected, which removed between 1 and 30 exons from the gene. Most microdeletions and insertions occurred at homopolymeric tracts or direct repeats within the coding sequence. These features have not been observed in the other FA gene which has been cloned to date (FAC) and may be indicative of a higher mutation rate in FAA. This would explain why FA group A is much more common than the other complementation groups. The heterogeneity of the mutation spectrum and the frequency of intragenic deletions present a considerable challenge for the molecular diagnosis of FA. A scan of the entire coding sequence of the FAA gene may be required to detect the causative mutations, and scanning protocols will have to include methods which will detect the deletions in compound heterozygotes." @default.
• W2034668175 created "2016-06-24" @default.
• W2034668175 creator A5000310018 @default.
• W2034668175 creator A5001823258 @default.
• W2034668175 creator A5012707915 @default.
• W2034668175 creator A5017831781 @default.
• W2034668175 creator A5018605883 @default.
• W2034668175 creator A5020441880 @default.
• W2034668175 creator A5026724408 @default.
• W2034668175 creator A5027065829 @default.
• W2034668175 creator A5033748783 @default.
• W2034668175 creator A5035105472 @default.
• W2034668175 creator A5040100217 @default.
• W2034668175 creator A5041880144 @default.
• W2034668175 creator A5043201493 @default.
• W2034668175 creator A5048187845 @default.
• W2034668175 creator A5049211733 @default.
• W2034668175 creator A5049735878 @default.
• W2034668175 creator A5053603003 @default.
• W2034668175 creator A5055597607 @default.
• W2034668175 creator A5056234211 @default.
• W2034668175 creator A5060286177 @default.
• W2034668175 creator A5060361931 @default.
• W2034668175 creator A5060439423 @default.
• W2034668175 creator A5064098487 @default.
• W2034668175 creator A5066436164 @default.
• W2034668175 creator A5068659922 @default.
• W2034668175 creator A5070229435 @default.
• W2034668175 creator A5072991370 @default.
• W2034668175 creator A5074151386 @default.
• W2034668175 creator A5077408861 @default.
• W2034668175 creator A5080018011 @default.
• W2034668175 creator A5080271377 @default.
• W2034668175 creator A5086066628 @default.
• W2034668175 date "1999-01-01" @default.
• W2034668175 modified "2023-10-17" @default.
• W2034668175 title "Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene" @default.
• W2034668175 doi "https://doi.org/10.1038/sj.ejhg.5200248" @default.
• W2034668175 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/10094191" @default.
• W2034668175 hasPublicationYear "1999" @default.
• W2034668175 type Work @default.
• W2034668175 sameAs 2034668175 @default.
• W2034668175 citedByCount "87" @default.
• W2034668175 countsByYear W20346681752012 @default.
• W2034668175 countsByYear W20346681752013 @default.
• W2034668175 countsByYear W20346681752014 @default.
• W2034668175 countsByYear W20346681752015 @default.
• W2034668175 countsByYear W20346681752016 @default.
• W2034668175 countsByYear W20346681752017 @default.
• W2034668175 countsByYear W20346681752018 @default.
• W2034668175 countsByYear W20346681752019 @default.
• W2034668175 countsByYear W20346681752020 @default.
• W2034668175 countsByYear W20346681752021 @default.
• W2034668175 crossrefType "journal-article" @default.
• W2034668175 hasAuthorship W2034668175A5000310018 @default.
• W2034668175 hasAuthorship W2034668175A5001823258 @default.
• W2034668175 hasAuthorship W2034668175A5012707915 @default.
• W2034668175 hasAuthorship W2034668175A5017831781 @default.
• W2034668175 hasAuthorship W2034668175A5018605883 @default.
• W2034668175 hasAuthorship W2034668175A5020441880 @default.
• W2034668175 hasAuthorship W2034668175A5026724408 @default.
• W2034668175 hasAuthorship W2034668175A5027065829 @default.
• W2034668175 hasAuthorship W2034668175A5033748783 @default.
• W2034668175 hasAuthorship W2034668175A5035105472 @default.
• W2034668175 hasAuthorship W2034668175A5040100217 @default.
• W2034668175 hasAuthorship W2034668175A5041880144 @default.
• W2034668175 hasAuthorship W2034668175A5043201493 @default.
• W2034668175 hasAuthorship W2034668175A5048187845 @default.
• W2034668175 hasAuthorship W2034668175A5049211733 @default.
• W2034668175 hasAuthorship W2034668175A5049735878 @default.
• W2034668175 hasAuthorship W2034668175A5053603003 @default.
• W2034668175 hasAuthorship W2034668175A5055597607 @default.
• W2034668175 hasAuthorship W2034668175A5056234211 @default.
• W2034668175 hasAuthorship W2034668175A5060286177 @default.
• W2034668175 hasAuthorship W2034668175A5060361931 @default.
• W2034668175 hasAuthorship W2034668175A5060439423 @default.
• W2034668175 hasAuthorship W2034668175A5064098487 @default.
• W2034668175 hasAuthorship W2034668175A5066436164 @default.
• W2034668175 hasAuthorship W2034668175A5068659922 @default.
• W2034668175 hasAuthorship W2034668175A5070229435 @default.
• W2034668175 hasAuthorship W2034668175A5072991370 @default.
• W2034668175 hasAuthorship W2034668175A5074151386 @default.
• W2034668175 hasAuthorship W2034668175A5077408861 @default.
• W2034668175 hasAuthorship W2034668175A5080018011 @default.
• W2034668175 hasAuthorship W2034668175A5080271377 @default.
• W2034668175 hasAuthorship W2034668175A5086066628 @default.
• W2034668175 hasBestOaLocation W20346681751 @default.
• W2034668175 hasConcept C102306862 @default.
• W2034668175 hasConcept C104317684 @default.
• W2034668175 hasConcept C127716648 @default.
• W2034668175 hasConcept C153911025 @default.
• W2034668175 hasConcept C188082640 @default.
• W2034668175 hasConcept C29906990 @default.
• W2034668175 hasConcept C2994225774 @default.
• W2034668175 hasConcept C36823959 @default.
• W2034668175 hasConcept C501734568 @default.
• W2034668175 hasConcept C54355233 @default.
• W2034668175 hasConcept C64618202 @default.

• next