Ryanodine receptor gene (RYR1) mutations for diagnosing susceptibility to malignant hyperthermia

被引:5
|
作者
Urwyler, A [1 ]
Halsall, PJ [1 ]
Mueller, C [1 ]
Robinson, R [1 ]
机构
[1] EMHG, Genet Sect, Wuerzberg, Germany
关键词
D O I
10.1034/j.1399-6576.2003.t01-2-00044.x
中图分类号
R614 [麻醉学];
学科分类号
100217 ;
摘要
引用
收藏
页码:492 / 492
页数:1
相关论文
共 50 条
  • [1] Ryanodine receptor gene (RYR1) mutations for diagnosing susceptibility to malignant hyperthermia - Reply
    Rueffert, H
    Olthoff, D
    [J]. ACTA ANAESTHESIOLOGICA SCANDINAVICA, 2003, 47 (04) : 493 - 493
  • [2] Malignant Hyperthermia and Ryanodine Receptor Type 1 Gene (RyR1) Mutation in a Family in Singapore
    Li, Daphne W. Y.
    Lai, Poh San
    Lee, Deice W.
    Yong, Rita Y. Y.
    Lee, Tat Leang
    [J]. ANNALS ACADEMY OF MEDICINE SINGAPORE, 2017, 46 (12) : 455 - 460
  • [3] LINKAGE BETWEEN THE RYANODINE RECEPTOR LOCUS (RYR1) AND THE MALIGNANT HYPERTHERMIA SUSCEPTIBILITY LOCUS (MHS)
    BALL, SP
    STEWART, AD
    ELLIS, FR
    HALSALL, PJ
    HOPKINS, P
    HALL, JL
    TAYLOR, GR
    MUELLER, RF
    DORKINS, HR
    MICKELSON, JR
    LOUIS, CF
    [J]. CYTOGENETICS AND CELL GENETICS, 1991, 58 (3-4): : 2016 - 2016
  • [4] Screening for mutations in the RYR1 gene in families with malignant hyperthermia
    Muniz, VP
    Silva, HCA
    Tsanaclis, AMC
    Vainzof, M
    [J]. JOURNAL OF MOLECULAR NEUROSCIENCE, 2003, 21 (01) : 35 - 42
  • [5] Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: Genotype-phenotype correlation
    Manning, BM
    Quane, KA
    Ording, H
    Urwyler, A
    Tegazzin, V
    Lehane, M
    O'Halloran, J
    Hartung, E
    Giblin, LM
    Lynch, PJ
    Vaughan, P
    Censier, K
    Bendixen, D
    Comi, G
    Heytens, L
    Monsieurs, K
    Fagerlund, T
    Wolz, W
    Heffron, JJA
    Muller, CR
    McCarthy, TV
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 62 (03) : 599 - 609
  • [6] Screening for mutations in the RYR1 gene in families with malignant hyperthermia
    Viviane P. Muniz
    Helga C. A. Silva
    Ana Maria C. Tsanaclis
    Mariz Vainzof
    [J]. Journal of Molecular Neuroscience, 2003, 21 : 35 - 42
  • [7] Identification of a novel mutation in the ryanodine receptor gene (RYR1) in a malignant hyperthermia Italian family
    Giuliana Fortunato
    Renata Berruti
    Virginia Brancadoro
    Morena Fattore
    Francesco Salvatore
    Antonella Carsana
    [J]. European Journal of Human Genetics, 2000, 8 : 149 - 152
  • [8] Screening for mutations in the RYR1 gene in families with malignant hyperthermia
    Muniz, VP
    Silva, HCA
    Tsanaclis, AMC
    Vainzof, M
    [J]. NEUROMUSCULAR DISORDERS, 2003, 13 (7-8) : 627 - 627
  • [9] Identification of a novel mutation in the ryanodine receptor gene (RYR1) in a malignant hyperthermia Italian family
    Fortunato, G
    Berruti, R
    Brancadoro, V
    Fattore, M
    Salvatore, F
    Carsana, A
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2000, 8 (02) : 149 - 152
  • [10] Molecular Genetic Analysis of the Ryanodine Receptor Gene (RYR1) in Korean Malignant Hyperthermia Families
    Lee, Ho
    Kim, Dong Chan
    Lee, Jae Hyeon
    Cho, Yong Gon
    Lee, Hye Soo
    Choi, Sam Im
    Kim, Dal Sik
    [J]. KOREAN JOURNAL OF LABORATORY MEDICINE, 2010, 30 (06): : 702 - 710