Exclusion of malignant hyperthermia susceptibility (MHS) from a putative MHS2 locus on chromosome 17q and of the alpha 1, beta 1, and gamma subunits of the dihydropyridine receptor calcium channel as candidates for the molecular defect.
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Exclusion of defects in the skeletal muscle specific regions of the DHPR alpha 1 subunit as frequent causes of malignant hyperthermiaMalignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal musclePrediction of human disease genes by human-mouse conserved coexpression analysis.Genetic heterogeneity and HOMOG analysis in British malignant hyperthermia familiesDiagnosis of malignant hyperthermia: a comparison of the in vitro contracture test with the molecular genetic diagnosis in a large pedigree.Genetics and pathogenesis of malignant hyperthermia.Channelopathies: ion channel defects linked to heritable clinical disorders.Identification and functional characterization of malignant hyperthermia mutation T1354S in the outer pore of the Cavalpha1S-subunit.Mutation screening of the RYR1 gene and identification of two novel mutations in Italian malignant hyperthermia familiesDiscordance, in a malignant hyperthermia pedigree, between in vitro contracture-test phenotypes and haplotypes for the MHS1 region on chromosome 19q12-13.2, comprising the C1840T transition in the RYR1 geneMapping of a further malignant hyperthermia susceptibility locus to chromosome 3q13.1.To fire the train: a second malignant-hyperthermia gene.The structure of the murine calcium channel gamma-subunit gene and protein.
P2860
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P2860
Exclusion of malignant hyperthermia susceptibility (MHS) from a putative MHS2 locus on chromosome 17q and of the alpha 1, beta 1, and gamma subunits of the dihydropyridine receptor calcium channel as candidates for the molecular defect.
description
1993 nî lūn-bûn
@nan
1993 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
name
Exclusion of malignant hyperth ...... ates for the molecular defect.
@ast
Exclusion of malignant hyperth ...... ates for the molecular defect.
@en
Exclusion of malignant hyperth ...... ates for the molecular defect.
@nl
type
label
Exclusion of malignant hyperth ...... ates for the molecular defect.
@ast
Exclusion of malignant hyperth ...... ates for the molecular defect.
@en
Exclusion of malignant hyperth ...... ates for the molecular defect.
@nl
prefLabel
Exclusion of malignant hyperth ...... ates for the molecular defect.
@ast
Exclusion of malignant hyperth ...... ates for the molecular defect.
@en
Exclusion of malignant hyperth ...... ates for the molecular defect.
@nl
P2093
P356
P1476
Exclusion of malignant hyperth ...... ates for the molecular defect.
@en
P2093
Du Chesne I
Lehmann-Horn F
P304
P356
10.1093/HMG/2.7.857
P577
1993-07-01T00:00:00Z