Scanning for mutations of the ryanodine receptor (RYR1) gene by denaturing HPLC: detection of three novel malignant hyperthermia alleles.
about
Novel excitation-contraction uncoupled RYR1 mutations in patients with central core disease.Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States.A recessive ryanodine receptor 1 mutation in a CCD patient increases channel activity.Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study.Central core disease mutations R4892W, I4897T and G4898E in the ryanodine receptor isoform 1 reduce the Ca2+ sensitivity and amplitude of Ca2+-dependent Ca2+ releaseHypermetabolism in B-lymphocytes from malignant hyperthermia susceptible individuals.Ryanodine receptor type 1 gene mutations found in the Canadian malignant hyperthermia population.Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathiesNovel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia families
P2860
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P2860
Scanning for mutations of the ryanodine receptor (RYR1) gene by denaturing HPLC: detection of three novel malignant hyperthermia alleles.
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name
Scanning for mutations of the ...... alignant hyperthermia alleles.
@en
Scanning for mutations of the ryanodine receptor
@nl
type
label
Scanning for mutations of the ...... alignant hyperthermia alleles.
@en
Scanning for mutations of the ryanodine receptor
@nl
prefLabel
Scanning for mutations of the ...... alignant hyperthermia alleles.
@en
Scanning for mutations of the ryanodine receptor
@nl
P2093
P356
P1433
P1476
Scanning for mutations of the ...... alignant hyperthermia alleles.
@en
P2093
Adele Bracco
Angela Tammaro
Antonietta Di Martino
Gennaro Savoia
Laura Zeuli
Maria Esposito
Santolo Cozzolino
Stefania Aurino
P304
P356
10.1373/49.5.761
P407
P577
2003-05-01T00:00:00Z