Matches in SemOpenAlex for { <https://semopenalex.org/work/W2135992594> ?p ?o ?g. }
Showing items 1 to 75 of
75
with 100 items per page.
- W2135992594 abstract "Summary Thechromosomal localization ofthe gene forThomsen disease, an autosomaldominant formofmyotonia congenita, isunknown. Electrophysiologic datainThomsen disease point todefects inmuscle-membrane ion-channel function. A mouse modelofmyotonia congenita appears toresult fromtransposoninactivation ofa muscle chloride-channel genewhich maps toa region ofmouse chromosome 6.Thelinkage group containing this geneincludes several loci whichhavehumanhomologues on humanchromosome 7q31-35 (synteny), andthis isa candidate region fortheThomsen disease locus. Linkage analysis ofThomsendisease totheT-cell-receptor beta(TCRB)locus at7q35was carried outinfourpedigrees (25affected and23 unaffected individuals) byusing a PCR-based dinucleotide repeatpolymorphism intheTCRBgene.Twopoint linkage analysis between Thomsen disease andTCRBshowed amaximumcumulative lod scoreof3.963 ata recombination fraction of.10(1-lod supportinterval .048-.275). We conclude that theThomsen disease locus islinked totheTCRBlocus inthese families." @default.
- W2135992594 created "2016-06-24" @default.
- W2135992594 creator A5014753400 @default.
- W2135992594 creator A5023927156 @default.
- W2135992594 creator A5030520384 @default.
- W2135992594 creator A5037626266 @default.
- W2135992594 creator A5041976658 @default.
- W2135992594 creator A5046246291 @default.
- W2135992594 creator A5049731235 @default.
- W2135992594 creator A5066559388 @default.
- W2135992594 date "1992-01-01" @default.
- W2135992594 modified "2023-09-27" @default.
- W2135992594 title "Linkage ofThomsenDisease totheT-Cell-Receptor Beta (TCRB)Locuson Chromosome7q35" @default.
- W2135992594 cites W2007425170 @default.
- W2135992594 cites W2039599894 @default.
- W2135992594 hasPublicationYear "1992" @default.
- W2135992594 type Work @default.
- W2135992594 sameAs 2135992594 @default.
- W2135992594 citedByCount "0" @default.
- W2135992594 crossrefType "journal-article" @default.
- W2135992594 hasAuthorship W2135992594A5014753400 @default.
- W2135992594 hasAuthorship W2135992594A5023927156 @default.
- W2135992594 hasAuthorship W2135992594A5030520384 @default.
- W2135992594 hasAuthorship W2135992594A5037626266 @default.
- W2135992594 hasAuthorship W2135992594A5041976658 @default.
- W2135992594 hasAuthorship W2135992594A5046246291 @default.
- W2135992594 hasAuthorship W2135992594A5049731235 @default.
- W2135992594 hasAuthorship W2135992594A5066559388 @default.
- W2135992594 hasConcept C104317684 @default.
- W2135992594 hasConcept C122735190 @default.
- W2135992594 hasConcept C142870003 @default.
- W2135992594 hasConcept C153911025 @default.
- W2135992594 hasConcept C2910653347 @default.
- W2135992594 hasConcept C30481170 @default.
- W2135992594 hasConcept C53702515 @default.
- W2135992594 hasConcept C54355233 @default.
- W2135992594 hasConcept C84597430 @default.
- W2135992594 hasConcept C86803240 @default.
- W2135992594 hasConceptScore W2135992594C104317684 @default.
- W2135992594 hasConceptScore W2135992594C122735190 @default.
- W2135992594 hasConceptScore W2135992594C142870003 @default.
- W2135992594 hasConceptScore W2135992594C153911025 @default.
- W2135992594 hasConceptScore W2135992594C2910653347 @default.
- W2135992594 hasConceptScore W2135992594C30481170 @default.
- W2135992594 hasConceptScore W2135992594C53702515 @default.
- W2135992594 hasConceptScore W2135992594C54355233 @default.
- W2135992594 hasConceptScore W2135992594C84597430 @default.
- W2135992594 hasConceptScore W2135992594C86803240 @default.
- W2135992594 hasLocation W21359925941 @default.
- W2135992594 hasOpenAccess W2135992594 @default.
- W2135992594 hasPrimaryLocation W21359925941 @default.
- W2135992594 hasRelatedWork W1602053491 @default.
- W2135992594 hasRelatedWork W1974162471 @default.
- W2135992594 hasRelatedWork W1990408805 @default.
- W2135992594 hasRelatedWork W1992985725 @default.
- W2135992594 hasRelatedWork W2003505594 @default.
- W2135992594 hasRelatedWork W2017424745 @default.
- W2135992594 hasRelatedWork W2028889482 @default.
- W2135992594 hasRelatedWork W2035206784 @default.
- W2135992594 hasRelatedWork W2048163194 @default.
- W2135992594 hasRelatedWork W2087753217 @default.
- W2135992594 hasRelatedWork W2145475797 @default.
- W2135992594 hasRelatedWork W2188647392 @default.
- W2135992594 hasRelatedWork W2736019641 @default.
- W2135992594 hasRelatedWork W9642608 @default.
- W2135992594 hasRelatedWork W2478897517 @default.
- W2135992594 hasRelatedWork W2563124502 @default.
- W2135992594 hasRelatedWork W2740556562 @default.
- W2135992594 hasRelatedWork W2740907846 @default.
- W2135992594 hasRelatedWork W2741221767 @default.
- W2135992594 hasRelatedWork W3034721296 @default.
- W2135992594 isParatext "false" @default.
- W2135992594 isRetracted "false" @default.
- W2135992594 magId "2135992594" @default.
- W2135992594 workType "article" @default.