Malignant hyperthermia in infancy and identification of novel RYR1 mutation.

Malignant hyperthermia in infancy and identification of novel RYR1 mutation.

Item
http://www.wikidata.org/entity/Q51400416
Malignant hyperthermiaCritical Role of Intracellular RyR1 Calcium Release Channels in Skeletal Muscle Function and DiseaseMalignant hyperthermia: a reviewSingle-amino-acid deletion in the RYR1 gene, associated with malignant hyperthermia susceptibility and unusual contraction phenotype.Management of malignant hyperthermia: diagnosis and treatment.Effects of conformational peptide probe DP4 on bidirectional signaling between DHPR and RyR1 calcium channels in voltage-clamped skeletal muscle fibers.Genotype-phenotype correlations in recessive RYR1-related myopathies.Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study.Babies in Distress: Malignant Hyperthermia in Infancy Explored.Malignant hyperthermia mutation sites in the Leu2442-Pro2477 (DP4) region of RyR1 (ryanodine receptor 1) are clustered in a structurally and functionally definable areaMutation screening in the ryanodine receptor 1 gene (RYR1) in patients susceptible to malignant hyperthermia who show definite IVCT results: identification of three novel mutations.Sudden death due to malignant hyperthermia with a mutation of RYR1: autopsy, morphology and genetic analysis.Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathiesEthics and Health Research: Decision Making in Aotearoa New Zealand
P2860

Malignant hyperthermia in infancy and identification of novel RYR1 mutation.

Item
http://www.wikidata.org/entity/Q51400416
description
2000 nî lūn-bûn
@nan
2000年の論文
@ja
2000年学术文章
@wuu
2000年学术文章
@zh
2000年学术文章
@zh-cn
2000年学术文章
@zh-hans
2000年学术文章
@zh-my
2000年学术文章
@zh-sg
2000年學術文章
@yue
2000年學術文章
@zh-hant
name
Malignant hyperthermia in infancy and identification of novel RYR1 mutation.
@en
Malignant hyperthermia in infancy and identification of novel RYR1 mutation.
@nl
type
label
Malignant hyperthermia in infancy and identification of novel RYR1 mutation.
@en
Malignant hyperthermia in infancy and identification of novel RYR1 mutation.
@nl
prefLabel
Malignant hyperthermia in infancy and identification of novel RYR1 mutation.
@en
Malignant hyperthermia in infancy and identification of novel RYR1 mutation.
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P577
P5875
P698
P356
P1433
P1476
Malignant hyperthermia in infancy and identification of novel RYR1 mutation.
@en
P2093
P304
P31
P356
10.1093/OXFORDJOURNALS.BJA.A013478
P407
P433
P478
P577
P5875
P698