Evidence for genetic heterogeneity of malignant hyperthermia susceptibility.

Evidence for genetic heterogeneity of malignant hyperthermia susceptibility.

Item
http://www.wikidata.org/entity/Q35195427
Malignant-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 muscleGenetic heterogeneity in Schwartz-Jampel syndrome: two families with neonatal Schwartz-Jampel syndrome do not map to human chromosome 1p34-p36.1.Genetic heterogeneity and HOMOG analysis in British malignant hyperthermia familiesInvestigation of muscle disease.Identification and functional characterization of malignant hyperthermia mutation T1354S in the outer pore of the Cavalpha1S-subunit.Refined genetic localization for central core disease.Discordance, 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.Intracellular calcium homeostasis in human primary muscle cells from malignant hyperthermia-susceptible and normal individuals. Effect Of overexpression of recombinant wild-type and Arg163Cys mutated ryanodine receptors.Voltage-dependent calcium release in human malignant hyperthermia muscle fibers.
P2860

Evidence for genetic heterogeneity of malignant hyperthermia susceptibility.

Item
http://www.wikidata.org/entity/Q35195427
description
1992 nî lūn-bûn
@nan
1992 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
name
Evidence for genetic heterogeneity of malignant hyperthermia susceptibility.
@ast
Evidence for genetic heterogeneity of malignant hyperthermia susceptibility.
@en
type
label
Evidence for genetic heterogeneity of malignant hyperthermia susceptibility.
@ast
Evidence for genetic heterogeneity of malignant hyperthermia susceptibility.
@en
prefLabel
Evidence for genetic heterogeneity of malignant hyperthermia susceptibility.
@ast
Evidence for genetic heterogeneity of malignant hyperthermia susceptibility.
@en
P1433
P1476
P2093
P2860
P304
P31
P407
P433
P478
P50
P577
P698
P932
P1433
P1476
Evidence for genetic heterogeneity of malignant hyperthermia susceptibility.
@en
P2093
P2860
P304
P31
P407
P433
P478
P50
P577
P698
P932