Linkage of Thomsen disease to the T-cell-receptor beta (TCRB) locus on chromosome 7q35.
The chromosomal localization of the gene for Thomsen disease, an autosomal dominant form of myotonia congenita, is unknown. Electrophysiologic data in Thomsen disease point to defects in muscle-membrane ion-channel function. A mouse model of myotonia congenita appears to result from transposon inact...
Prif Awduron: | Abdalla, J, Casley, W, Cousin, H, Hudson, A, Murphy, E, Cornélis, F, Hashimoto, L, Ebers, G |
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Fformat: | Journal article |
Iaith: | English |
Cyhoeddwyd: |
1992
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Eitemau Tebyg
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LINKAGE OF AUTOSOMAL DOMINANT MYOTONIA-CONGENITA (THOMSEN DISEASE) TO THE TCRB GENE LOCUS ON CHROMOSOME-7Q35
gan: Abdalla, J, et al.
Cyhoeddwyd: (1992) -
Haplotype Analysis of the T-Cell Receptor Beta (TCRB) Locus by Long-amplicon TCRB Repertoire Sequencing
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Cyhoeddwyd: (2019-09-01) -
Linkage analysis of candidate loci in autosomal dominant myotonia congenita.
gan: Abdalla, J, et al.
Cyhoeddwyd: (1992) -
Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita).
gan: George, A, et al.
Cyhoeddwyd: (1993) -
Exclusion of linkage between hypokalemic periodic paralysis (HOKPP) and three candidate loci.
gan: Casley, W, et al.
Cyhoeddwyd: (1992)