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Volumn 41, Issue 1, 2003, Pages 20-22

Identification of new polymorphisms in the CACNA1S gene

Author keywords

CACAN1S; Calcium channel; Hypokalemic periodic paralysis; Malignant hyperthermia; Single nucleotide polymorphism (SNP)

Indexed keywords

1,4 DIHYDROPYRIDINE RECEPTOR; ALANINE; ASPARAGINE; NUCLEOTIDE; RESTRICTION ENDONUCLEASE;

EID: 0037216203     PISSN: 14346621     EISSN: None     Source Type: Journal    
DOI: 10.1515/CCLM.2003.004     Document Type: Article
Times cited : (6)

References (8)
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    • Malignant hyperthermia susceptibility is associated with a mutation of the α1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium channel receptor in skeletal muscle
    • Monnier N, Procaccio V, Stieglitz P, Lunardi J. Malignant hyperthermia susceptibility is associated with a mutation of the α1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium channel receptor in skeletal muscle. Am J Hum Genet 1997; 60:1316-1.
    • (1997) Am. J. Hum. Genet. , vol.60 , pp. 1311-1316
    • Monnier, N.1    Procaccio, V.2    Stieglitz, P.3    Lunardi, J.4
  • 4
    • 0028854326 scopus 로고
    • Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): Genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 Caucasian families
    • Elbaz A, Vale-Santos J, Jurkat-Rott K, Lapie P, Ophoff RA, Bady B, et al. Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 Caucasian families. Am J Hum Genet 1995; 56:374-80
    • (1995) Am. J. Hum. Genet. , vol.56 , pp. 374-380
    • Elbaz, A.1    Vale-Santos, J.2    Jurkat-Rott, K.3    Lapie, P.4    Ophoff, R.A.5    Bady, B.6
  • 5
    • 0040565182 scopus 로고    scopus 로고
    • Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current
    • Jurkatt-Rott K, Mitrovic N, Hang C, Kouzmekine A, Iaizzo P, Herzog J, et al. Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current. Proc Natl Acad Sci USA. 2000; 97:9832-3.
    • (2000) Proc. Natl. Acad. Sci. USA , vol.97 , pp. 9832-9833
    • Jurkatt-Rott, K.1    Mitrovic, N.2    Hang, C.3    Kouzmekine, A.4    Iaizzo, P.5    Herzog, J.6
  • 6
    • 0012215440 scopus 로고    scopus 로고
    • Genetic linkage analysis in Italian malignant hyperthermia families
    • [abstract] Annual Meeting of the European Malignant Hyperthermia Group Napoli 21-23 May
    • Carsana A, Fortunato G, Tinto N, Brancadoro V, Salvatore F. Genetic linkage analysis in Italian malignant hyperthermia families [abstract]. Annual Meeting of the European Malignant Hyperthermia Group 1998, Napoli, 21-23 May.
    • (1998)
    • Carsana, A.1    Fortunato, G.2    Tinto, N.3    Brancadoro, V.4    Salvatore, F.5
  • 7
    • 0034908554 scopus 로고    scopus 로고
    • Nomenclature for the description of human sequence variations
    • den Dunnen JT, Antonarakis SE. Nomenclature for the description of human sequence variations. Hum Genet 2001; 109:121-4.
    • (2001) Hum. Genet. , vol.109 , pp. 121-124
    • den Dunnen, J.T.1    Antonarakis, S.E.2
  • 8
    • 0021149183 scopus 로고
    • Malignant hyperpyrexia: A protocol for the investigation of malignant hyperthermia
    • European Malignant Hyperthermia Group
    • European Malignant Hyperthermia Group. Malignant hyperpyrexia: a protocol for the investigation of malignant hyperthermia. Br J Anaesth 1984; 56:1267-9.
    • (1984) Br. J. Anaesth. , vol.56 , pp. 1267-1269


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.