FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W20497567> ?p ?o ?g. }

• W20497567 endingPage "30" @default.
• W20497567 startingPage "1223" @default.
• W20497567 abstract "Charcot-Marie-Tooth type 1A (CMT1A) disease and hereditary neuropathy with liability to pressure palsies (HNPP) are autosomal dominant neuropathies, associated, respectively, with duplications and deletions of the same 1.5-Mb region on 17p11.2-p12. These two rearrangements are the reciprocal products of an unequal meiotic crossover between the two chromosome 17 homologues, caused by the misalignment of the CMT1A repeat sequences (CMT1A-REPs), the homologous sequences flanking the 1.5-Mb CMT1A/HNPP monomer unit. In order to map recombination breakpoints within the CMT1A-REPs, a 12.9-kb restriction map was constructed from cloned EcoRI fragments of the proximal and distal CMT1A-REPs. Only 3 of the 17 tested restriction sites were present in the proximal CMT1A-REP but absent in the distal CMT1A-REP, indicating a high degree of homology between these sequences. The rearrangements were mapped in four regions of the CMT1A-REPs by analysis of 76 CMT1A index cases and 38 HNPP patients, who where unrelated. A hot spot of crossover breakpoints, located in a 3.2-kb region, accounted for three-quarters of the rearrangements, detected after EcoRI/SacI digestion, by the presence of 3.2-kb and 7.8-kb junction fragments in CMT1A and HNPP patients, respectively. These junction fragments, which can be detected on classical Southern blots, permit molecular diagnosis. Other rearrangements can also be detected by gene dosage on the same Southern blots." @default.
• W20497567 created "2016-06-24" @default.
• W20497567 creator A5009141794 @default.
• W20497567 creator A5023778362 @default.
• W20497567 creator A5031611475 @default.
• W20497567 creator A5036706411 @default.
• W20497567 creator A5047806774 @default.
• W20497567 creator A5051659352 @default.
• W20497567 creator A5066676166 @default.
• W20497567 creator A5068904664 @default.
• W20497567 creator A5075965534 @default.
• W20497567 creator A5076428812 @default.
• W20497567 date "1996-06-01" @default.
• W20497567 modified "2023-09-27" @default.
• W20497567 title "Recombination hot spot in a 3.2-kb region of the Charcot-Marie-Tooth type 1A repeat sequences: new tools for molecular diagnosis of hereditary neuropathy with liability to pressure palsies and of Charcot-Marie-Tooth type 1A. French CMT Collaborative Research Group." @default.
• W20497567 cites W1592299116 @default.
• W20497567 cites W1972543680 @default.
• W20497567 cites W1973224467 @default.
• W20497567 cites W2009739954 @default.
• W20497567 cites W2022429196 @default.
• W20497567 cites W2025859952 @default.
• W20497567 cites W2026537232 @default.
• W20497567 cites W2055022191 @default.
• W20497567 cites W2073835802 @default.
• W20497567 cites W2081806423 @default.
• W20497567 cites W2084228349 @default.
• W20497567 cites W2084336252 @default.
• W20497567 cites W2084756226 @default.
• W20497567 cites W2097742056 @default.
• W20497567 cites W2103256993 @default.
• W20497567 cites W2115014797 @default.
• W20497567 cites W2144899009 @default.
• W20497567 cites W2161219282 @default.
• W20497567 cites W2164219094 @default.
• W20497567 cites W2289260697 @default.
• W20497567 cites W2321918404 @default.
• W20497567 cites W2352924494 @default.
• W20497567 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/1915048" @default.
• W20497567 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/8651299" @default.
• W20497567 hasPublicationYear "1996" @default.
• W20497567 type Work @default.
• W20497567 sameAs 20497567 @default.
• W20497567 citedByCount "21" @default.
• W20497567 countsByYear W204975672014 @default.
• W20497567 crossrefType "journal-article" @default.
• W20497567 hasAuthorship W20497567A5009141794 @default.
• W20497567 hasAuthorship W20497567A5023778362 @default.
• W20497567 hasAuthorship W20497567A5031611475 @default.
• W20497567 hasAuthorship W20497567A5036706411 @default.
• W20497567 hasAuthorship W20497567A5047806774 @default.
• W20497567 hasAuthorship W20497567A5051659352 @default.
• W20497567 hasAuthorship W20497567A5066676166 @default.
• W20497567 hasAuthorship W20497567A5068904664 @default.
• W20497567 hasAuthorship W20497567A5075965534 @default.
• W20497567 hasAuthorship W20497567A5076428812 @default.
• W20497567 hasConcept C104317684 @default.
• W20497567 hasConcept C128319531 @default.
• W20497567 hasConcept C130123407 @default.
• W20497567 hasConcept C133307689 @default.
• W20497567 hasConcept C141231307 @default.
• W20497567 hasConcept C153911025 @default.
• W20497567 hasConcept C156695909 @default.
• W20497567 hasConcept C206936463 @default.
• W20497567 hasConcept C30481170 @default.
• W20497567 hasConcept C51603236 @default.
• W20497567 hasConcept C54355233 @default.
• W20497567 hasConcept C84289048 @default.
• W20497567 hasConcept C86803240 @default.
• W20497567 hasConceptScore W20497567C104317684 @default.
• W20497567 hasConceptScore W20497567C128319531 @default.
• W20497567 hasConceptScore W20497567C130123407 @default.
• W20497567 hasConceptScore W20497567C133307689 @default.
• W20497567 hasConceptScore W20497567C141231307 @default.
• W20497567 hasConceptScore W20497567C153911025 @default.
• W20497567 hasConceptScore W20497567C156695909 @default.
• W20497567 hasConceptScore W20497567C206936463 @default.
• W20497567 hasConceptScore W20497567C30481170 @default.
• W20497567 hasConceptScore W20497567C51603236 @default.
• W20497567 hasConceptScore W20497567C54355233 @default.
• W20497567 hasConceptScore W20497567C84289048 @default.
• W20497567 hasConceptScore W20497567C86803240 @default.
• W20497567 hasIssue "6" @default.
• W20497567 hasLocation W204975671 @default.
• W20497567 hasOpenAccess W20497567 @default.
• W20497567 hasPrimaryLocation W204975671 @default.
• W20497567 hasRelatedWork W1495678881 @default.
• W20497567 hasRelatedWork W1985643050 @default.
• W20497567 hasRelatedWork W2030294411 @default.
• W20497567 hasRelatedWork W20497567 @default.
• W20497567 hasRelatedWork W2057048281 @default.
• W20497567 hasRelatedWork W2057896124 @default.
• W20497567 hasRelatedWork W2084914085 @default.
• W20497567 hasRelatedWork W2108825533 @default.
• W20497567 hasRelatedWork W2169756550 @default.
• W20497567 hasRelatedWork W2464139267 @default.
• W20497567 hasVolume "58" @default.
• W20497567 isParatext "false" @default.
• W20497567 isRetracted "false" @default.

• next