Matches in SemOpenAlex for { <https://semopenalex.org/work/W2024493492> ?p ?o ?g. }
Showing items 1 to 76 of
76
with 100 items per page.
- W2024493492 endingPage "S38" @default.
- W2024493492 startingPage "S32" @default.
- W2024493492 abstract "Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant disorder with a frequency of 1 in 20,000. The report in 1992 of a DNA polymorphism that occurred both in familial and sporadic cases led to the pronouncement that the FSHD defect had been identified. Unfortunately, 2 years have passed without the isolation of a gene or definitive proof of the mutation. Over this time it has become clear that the region of the human genome containing the FSHD gene is a complex assemblage of mildly repetitive sequences that includes the suspected polymorphic fragment. We have employed molecular and cytogenetic techniques to initiate the structural analysis of terminal 4q35 in an effort to facilitate the isolation of the gene responsible for FSHD. As a result of these efforts and our inability to identify expressed sequences unique to 4q35 we have begun to consider alternate hypotheses for a molecular mechanism resulting in FSHD other than a simple coding sequence disruption." @default.
- W2024493492 created "2016-06-24" @default.
- W2024493492 creator A5033331229 @default.
- W2024493492 creator A5054574002 @default.
- W2024493492 creator A5055402508 @default.
- W2024493492 creator A5061345878 @default.
- W2024493492 date "1995-01-01" @default.
- W2024493492 modified "2023-09-27" @default.
- W2024493492 title "Efforts toward understanding the molecular basis of facioscapulohumeral muscular dystrophy" @default.
- W2024493492 cites W1964930281 @default.
- W2024493492 cites W1970666945 @default.
- W2024493492 cites W1991713583 @default.
- W2024493492 cites W2016109355 @default.
- W2024493492 cites W2018199521 @default.
- W2024493492 cites W2025030196 @default.
- W2024493492 cites W2029055264 @default.
- W2024493492 cites W2041985900 @default.
- W2024493492 cites W2056870821 @default.
- W2024493492 cites W2068343493 @default.
- W2024493492 cites W2082127114 @default.
- W2024493492 cites W2088309827 @default.
- W2024493492 cites W2104840859 @default.
- W2024493492 cites W2107329946 @default.
- W2024493492 cites W2118562875 @default.
- W2024493492 cites W2137595520 @default.
- W2024493492 cites W2161728879 @default.
- W2024493492 cites W2172111012 @default.
- W2024493492 doi "https://doi.org/10.1002/mus.880181308" @default.
- W2024493492 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/7739623" @default.
- W2024493492 hasPublicationYear "1995" @default.
- W2024493492 type Work @default.
- W2024493492 sameAs 2024493492 @default.
- W2024493492 citedByCount "26" @default.
- W2024493492 countsByYear W20244934922012 @default.
- W2024493492 countsByYear W20244934922014 @default.
- W2024493492 countsByYear W20244934922016 @default.
- W2024493492 countsByYear W20244934922017 @default.
- W2024493492 crossrefType "journal-article" @default.
- W2024493492 hasAuthorship W2024493492A5033331229 @default.
- W2024493492 hasAuthorship W2024493492A5054574002 @default.
- W2024493492 hasAuthorship W2024493492A5055402508 @default.
- W2024493492 hasAuthorship W2024493492A5061345878 @default.
- W2024493492 hasConcept C104317684 @default.
- W2024493492 hasConcept C2779030066 @default.
- W2024493492 hasConcept C2779981540 @default.
- W2024493492 hasConcept C54355233 @default.
- W2024493492 hasConcept C70721500 @default.
- W2024493492 hasConcept C86803240 @default.
- W2024493492 hasConceptScore W2024493492C104317684 @default.
- W2024493492 hasConceptScore W2024493492C2779030066 @default.
- W2024493492 hasConceptScore W2024493492C2779981540 @default.
- W2024493492 hasConceptScore W2024493492C54355233 @default.
- W2024493492 hasConceptScore W2024493492C70721500 @default.
- W2024493492 hasConceptScore W2024493492C86803240 @default.
- W2024493492 hasIssue "S13" @default.
- W2024493492 hasLocation W20244934921 @default.
- W2024493492 hasLocation W20244934922 @default.
- W2024493492 hasOpenAccess W2024493492 @default.
- W2024493492 hasPrimaryLocation W20244934921 @default.
- W2024493492 hasRelatedWork W1984133926 @default.
- W2024493492 hasRelatedWork W1986936656 @default.
- W2024493492 hasRelatedWork W2002128513 @default.
- W2024493492 hasRelatedWork W2074134501 @default.
- W2024493492 hasRelatedWork W2148476856 @default.
- W2024493492 hasRelatedWork W2399192248 @default.
- W2024493492 hasRelatedWork W4221044375 @default.
- W2024493492 hasRelatedWork W4231068709 @default.
- W2024493492 hasRelatedWork W79490635 @default.
- W2024493492 hasRelatedWork W2092874662 @default.
- W2024493492 hasVolume "18" @default.
- W2024493492 isParatext "false" @default.
- W2024493492 isRetracted "false" @default.
- W2024493492 magId "2024493492" @default.
- W2024493492 workType "article" @default.