Matches in SemOpenAlex for { <https://semopenalex.org/work/W2012348541> ?p ?o ?g. }
Showing items 1 to 74 of
74
with 100 items per page.
- W2012348541 endingPage "171" @default.
- W2012348541 startingPage "160" @default.
- W2012348541 abstract "Facioscapulohumeral muscular dystrophy (FSHD) is the third most common inherited neuromuscular disorder after Duchenne muscular dystrophy and myotonic dystrophy. The gene underlying FSHD was mapped to chromosome 4q35 in 1990 and was shown to be closely linked to locus D4F104S1. Although D4F104S1-associated deletions are closely associated with FSHD, the identity and location of the FSHD gene (or genes) still remain elusive, as does the mechanistic basis of the disease. In addition, although approximately 5% of FSHD families fail to exhibit linkage to 4q35, a putative second locus remains unidentified. The search for the FSHD gene has been hampered both by sequence homologies between the 4q35 candidate region and other chromosomal regions and by the presence of many highly repetitive sequences. Molecular diagnosis for FSHD is usually offered with 98% accuracy but because of its complexity, a much more simple test would be preferable. Indeed, the identification of the FSHD gene itself should potentiate major improvements in diagnostic testing." @default.
- W2012348541 created "2016-06-24" @default.
- W2012348541 creator A5042325315 @default.
- W2012348541 creator A5042443600 @default.
- W2012348541 date "2002-03-01" @default.
- W2012348541 modified "2023-10-14" @default.
- W2012348541 title "Molecular diagnosis of facioscapulohumeral muscular dystrophy" @default.
- W2012348541 cites W1991105138 @default.
- W2012348541 cites W1994352206 @default.
- W2012348541 cites W2010580448 @default.
- W2012348541 cites W2025030196 @default.
- W2012348541 cites W2044057928 @default.
- W2012348541 cites W2058045711 @default.
- W2012348541 cites W2082127114 @default.
- W2012348541 cites W2096539161 @default.
- W2012348541 cites W2134324352 @default.
- W2012348541 cites W2139263406 @default.
- W2012348541 cites W2149885910 @default.
- W2012348541 cites W2158866405 @default.
- W2012348541 cites W2169464461 @default.
- W2012348541 cites W2312705379 @default.
- W2012348541 cites W3146320740 @default.
- W2012348541 doi "https://doi.org/10.1586/14737159.2.2.160" @default.
- W2012348541 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/11962336" @default.
- W2012348541 hasPublicationYear "2002" @default.
- W2012348541 type Work @default.
- W2012348541 sameAs 2012348541 @default.
- W2012348541 citedByCount "25" @default.
- W2012348541 countsByYear W20123485412012 @default.
- W2012348541 countsByYear W20123485412013 @default.
- W2012348541 countsByYear W20123485412014 @default.
- W2012348541 countsByYear W20123485412015 @default.
- W2012348541 countsByYear W20123485412017 @default.
- W2012348541 crossrefType "journal-article" @default.
- W2012348541 hasAuthorship W2012348541A5042325315 @default.
- W2012348541 hasAuthorship W2012348541A5042443600 @default.
- W2012348541 hasConcept C104317684 @default.
- W2012348541 hasConcept C142870003 @default.
- W2012348541 hasConcept C2778063965 @default.
- W2012348541 hasConcept C2779030066 @default.
- W2012348541 hasConcept C2779981540 @default.
- W2012348541 hasConcept C54355233 @default.
- W2012348541 hasConcept C84597430 @default.
- W2012348541 hasConcept C86803240 @default.
- W2012348541 hasConceptScore W2012348541C104317684 @default.
- W2012348541 hasConceptScore W2012348541C142870003 @default.
- W2012348541 hasConceptScore W2012348541C2778063965 @default.
- W2012348541 hasConceptScore W2012348541C2779030066 @default.
- W2012348541 hasConceptScore W2012348541C2779981540 @default.
- W2012348541 hasConceptScore W2012348541C54355233 @default.
- W2012348541 hasConceptScore W2012348541C84597430 @default.
- W2012348541 hasConceptScore W2012348541C86803240 @default.
- W2012348541 hasIssue "2" @default.
- W2012348541 hasLocation W20123485411 @default.
- W2012348541 hasLocation W20123485412 @default.
- W2012348541 hasOpenAccess W2012348541 @default.
- W2012348541 hasPrimaryLocation W20123485411 @default.
- W2012348541 hasRelatedWork W1984133926 @default.
- W2012348541 hasRelatedWork W1986936656 @default.
- W2012348541 hasRelatedWork W2017380671 @default.
- W2012348541 hasRelatedWork W2025201544 @default.
- W2012348541 hasRelatedWork W2074134501 @default.
- W2012348541 hasRelatedWork W2116911381 @default.
- W2012348541 hasRelatedWork W2399192248 @default.
- W2012348541 hasRelatedWork W4221044375 @default.
- W2012348541 hasRelatedWork W4231068709 @default.
- W2012348541 hasRelatedWork W79490635 @default.
- W2012348541 hasVolume "2" @default.
- W2012348541 isParatext "false" @default.
- W2012348541 isRetracted "false" @default.
- W2012348541 magId "2012348541" @default.
- W2012348541 workType "article" @default.