A genome wide search for susceptibility loci in three European malignant hyperthermia pedigrees
about
Exome sequencing reveals novel rare variants in the ryanodine receptor and calcium channel genes in malignant hyperthermia families.Neurological channelopathies.The role of CACNA1S in predisposition to malignant hyperthermiaGenetic heterogeneity and HOMOG analysis in British malignant hyperthermia familiesChannelopathies: ion channel defects linked to heritable clinical disorders.Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation.Identification and functional characterization of malignant hyperthermia mutation T1354S in the outer pore of the Cavalpha1S-subunit.Genetic risk for malignant hyperthermia in non-anesthesia-induced myopathiesRYR1 mutations as a cause of ophthalmoplegia, facial weakness, and malignant hyperthermia.Calsequestrin-1: a new candidate gene for malignant hyperthermia and exertional/environmental heat stroke.Babies in Distress: Malignant Hyperthermia in Infancy Explored.Determination of a positive malignant hyperthermia (MH) disposition without the in vitro contracture test in families carrying the RYR1 Arg614Cys mutation.Effects of Mg(2+) and SR luminal Ca(2+) on caffeine-induced Ca(2+) release in skeletal muscle from humans susceptible to malignant hyperthermia.Recent advances in the diagnosis of malignant hyperthermia susceptibility: how confident can we be of genetic testing?Comparative analysis of in vitro contracture tests with ryanodine and a combination of ryanodine with either halothane or caffeine: a comparative investigation in malignant hyperthermia.Malignant Hyperthermia in the Post-Genomics Era: New Perspectives on an Old Concept.Strenuous exercise triggers a life-threatening response in mice susceptible to malignant hyperthermia.Anaesthesia for chest wall reconstruction in a patient with Poland syndrome: CARE-compliant case report and literature review.Novel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia families
P2860
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P2860
A genome wide search for susceptibility loci in three European malignant hyperthermia pedigrees
description
1997 nî lūn-bûn
@nan
1997 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
A genome wide search for susce ...... lignant hyperthermia pedigrees
@ast
A genome wide search for susce ...... lignant hyperthermia pedigrees
@en
A genome wide search for susce ...... lignant hyperthermia pedigrees
@nl
type
label
A genome wide search for susce ...... lignant hyperthermia pedigrees
@ast
A genome wide search for susce ...... lignant hyperthermia pedigrees
@en
A genome wide search for susce ...... lignant hyperthermia pedigrees
@nl
prefLabel
A genome wide search for susce ...... lignant hyperthermia pedigrees
@ast
A genome wide search for susce ...... lignant hyperthermia pedigrees
@en
A genome wide search for susce ...... lignant hyperthermia pedigrees
@nl
P2093
P2860
P50
P356
P1476
A genome wide search for susce ...... lignant hyperthermia pedigrees
@en
P2093
C R Mueller
C van Broeckhoven
G Nuernberg
J L Curran
P M Hopkins
P Stieglitz
P2860
P304
P356
10.1093/HMG/6.6.953
P407
P577
1997-06-01T00:00:00Z