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Volumn 16, Issue 5, 2001, Pages 939-944

Identification of mutations including de novo mutations in Korean patients with hypokalaemic periodic paralysis

Author keywords

De novo; Hypokalaemia; Korean; Mutation; Paralysis; Periodic

Indexed keywords

ACETAZOLAMIDE; ARGININE; BIOCHEMICAL MARKER; CALCIUM CHANNEL; CARRIER PROTEIN; DIHYDROPYRIDINE; GLYCINE; HISTIDINE; ION CHANNEL; MICROSATELLITE DNA; SPIRONOLACTONE;

EID: 0035003905     PISSN: 09310509     EISSN: None     Source Type: Journal    
DOI: 10.1093/ndt/16.5.939     Document Type: Article
Times cited : (18)

References (19)
  • 2
    • 84933468777 scopus 로고
    • Periodic paralysis
    • Talboty J. Periodic paralysis. Medicine 1941; 20: 85-96
    • (1941) Medicine , vol.20 , pp. 85-96
    • Talboty, J.1
  • 3
    • 0030992784 scopus 로고    scopus 로고
    • Hypokalemic periodic paralysis: An autosomal dominant muscle disorder caused by mutations in a voltage-gated calcium channel
    • Lapie P, Lory P, Fontaine B. Hypokalemic periodic paralysis: an autosomal dominant muscle disorder caused by mutations in a voltage-gated calcium channel. Neuromuscul Disord 1997; 7: 234-240
    • (1997) Neuromuscul Disord , vol.7 , pp. 234-240
    • Lapie, P.1    Lory, P.2    Fontaine, B.3
  • 4
    • 0028361074 scopus 로고
    • Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome lq31-32 in three European families
    • Fontaine B, Vale-Santos J, Jurkat-Rott K et al. Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome lq31-32 in three European families. Nature Genet 1994; 6: 267-272
    • (1994) Nature Genet , vol.6 , pp. 267-272
    • Fontaine, B.1    Vale-Santos, J.2    Jurkat-Rott, K.3
  • 5
    • 0028234647 scopus 로고
    • Dihydropyridine receptor mutations cause hypokalemic periodic paralysis
    • Ptacek LJ, Tawil R, Griggs RC et al. Dihydropyridine receptor mutations cause hypokalemic periodic paralysis. Cell 1994; 77: 863-868
    • (1994) Cell , vol.77 , pp. 863-868
    • Ptacek, L.J.1    Tawil, R.2    Griggs, R.C.3
  • 6
    • 0027532167 scopus 로고
    • 1 subunit of the skeletal muscle DHP-sensitive Ca2+ channel (CACNL1A3) to chromosome lq31-q32
    • 1 subunit of the skeletal muscle DHP-sensitive Ca2+ channel (CACNL1A3) to chromosome lq31-q32. Genomics 1993; 15: 107-112
    • (1993) Genomics , vol.15 , pp. 107-112
    • Gregg, R.G.1    Couch, F.2    Hogan, K.3    Powers, P.A.4
  • 7
    • 0027370976 scopus 로고
    • Structure and function of voltage-gated ion channels
    • Catterall WA. Structure and function of voltage-gated ion channels. Trends Neurosci 1993; 16: 500-506
    • (1993) Trends Neurosci , vol.16 , pp. 500-506
    • Catterall, W.A.1
  • 8
    • 0023261936 scopus 로고
    • Primary structure of the receptor for calcium channel blockers from skeletal muscle
    • Tanabe T, Takeshima H, Mikami A et al. Primary structure of the receptor for calcium channel blockers from skeletal muscle. Nature 1987; 328: 313-318
    • (1987) Nature , vol.328 , pp. 313-318
    • Tanabe, T.1    Takeshima, H.2    Mikami, A.3
  • 9
    • 0027965420 scopus 로고
    • A calcium channel mutation causing hypokalemic periodic paralysis
    • Jurkat-Rott K, Lehmann-Horn F, Elbaz A et al. A calcium channel mutation causing hypokalemic periodic paralysis. Hum Mol Genet 1994; 3: 1415-1419
    • (1994) Hum Mol Genet , vol.3 , pp. 1415-1419
    • Jurkat-Rott, K.1    Lehmann-Horn, F.2    Elbaz, A.3
  • 10
    • 0031298525 scopus 로고    scopus 로고
    • Mutation analysis of the CACNL1A3 gene in Japanese hypokalemic periodic paralysis families
    • Nippon Rinsho
    • Ikeda Y, Watanabe M, Shoji M. [Mutation analysis of the CACNL1A3 gene in Japanese hypokalemic periodic paralysis families]. Nippon Rinsho. Jpn J Clin Med 1997; 55: 3247-3252
    • (1997) Jpn J Clin Med , vol.55 , pp. 3247-3252
    • Ikeda, Y.1    Watanabe, M.2    Shoji, M.3
  • 11
    • 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 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: 374-380
    • (1995) Am J Hum Genet , vol.56 , pp. 374-380
    • Elbaz, A.1    Vale-Santos, J.2    Jurkat-Rott, K.3
  • 12
    • 0031046104 scopus 로고    scopus 로고
    • Identification of mutations in the CACNL1A3 gene in 13 families of scandinavian origin having hypokalemic periodic paralysis and evidence of a founder effect in Danish families
    • Sillen A, Sorensen T, Kantola I, Friis ML, Gustavson KH, Wadelius C. Identification of mutations in the CACNL1A3 gene in 13 families of Scandinavian origin having hypokalemic periodic paralysis and evidence of a founder effect in Danish families. Am J Med Genet 1997; 69: 102-106
    • (1997) Am J Med Genet , vol.69 , pp. 102-106
    • Sillen, A.1    Sorensen, T.2    Kantola, I.3    Friis, M.L.4    Gustavson, K.H.5    Wadelius, C.6
  • 15
    • 0026629701 scopus 로고
    • Strategies for characterizing highly polymorphic markers in human gene mapping
    • Ott J. Strategies for characterizing highly polymorphic markers in human gene mapping. Am J Hum Genet 1992; 51: 283-290
    • (1992) Am J Hum Genet , vol.51 , pp. 283-290
    • Ott, J.1
  • 16
    • 0028007559 scopus 로고
    • Genetic heterogeneity in hypokalemic periodic paralysis (hypoPP)
    • Plassart E, Elbaz A, Santos JV et al. Genetic heterogeneity in hypokalemic periodic paralysis (hypoPP). Hum Genet 1994; 94: 551-556
    • (1994) Hum Genet , vol.94 , pp. 551-556
    • Plassart, E.1    Elbaz, A.2    Santos, J.V.3
  • 17
    • 0003041607 scopus 로고    scopus 로고
    • Diseases of muscle
    • Fauci A, Braunwald E, Isselbacher K et al., eds. McGraw-Hill, New York
    • Mendell J, Griggs R, Ptacek L. Diseases of muscle. In: Fauci A, Braunwald E, Isselbacher K et al., eds. Harrison's Principles of Internal Medicine, 14 edn, vol. 2. McGraw-Hill, New York, 1998, 2473-2483
    • (1998) Harrison's Principles of Internal Medicine, 14 Edn , vol.2 , pp. 2473-2483
    • Mendell, J.1    Griggs, R.2    Ptacek, L.3
  • 18
    • 0023853921 scopus 로고
    • The CpG dinucleotide and human genetic disease
    • Cooper DN, Youssoufian H. The CpG dinucleotide and human genetic disease. Hum Genet 1988; 78: 151-155
    • (1988) Hum Genet , vol.78 , pp. 151-155
    • Cooper, D.N.1    Youssoufian, H.2
  • 19
    • 0028960841 scopus 로고
    • Recent human germ-line mutation: Inferences from patients with hemophilia B
    • Sommer SS. Recent human germ-line mutation: inferences from patients with hemophilia B. Trends Genet 1995; 11: 141-147
    • (1995) Trends Genet , vol.11 , pp. 141-147
    • Sommer, S.S.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.