메뉴 건너뛰기




Volumn 11, Issue 2, 1998, Pages 158-165

Molecular genetics of the long QT syndrome: Two novel mutations of the KVLQT1 gene and phenotypic expression of the mutant gene in a large kindred

Author keywords

Chromosome 11; Genetic diagnosis; LQTS; Potassium channel

Indexed keywords

POTASSIUM CHANNEL;

EID: 0031930347     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1998)11:2<158::AID-HUMU9>3.0.CO;2-F     Document Type: Article
Times cited : (45)

References (28)
  • 4
    • 0030016059 scopus 로고    scopus 로고
    • Evidence of a long QT founder gene with varying phenotype expression in South African families
    • de Jager T, Corbett CH, Badenhorst JCW, Brink PA, Corfield VA (1996) Evidence of a long QT founder gene with varying phenotype expression in South African families. J Med Genet 33:567-573.
    • (1996) J Med Genet , vol.33 , pp. 567-573
    • De Jager, T.1    Corbett, C.H.2    Badenhorst, J.C.W.3    Brink, P.A.4    Corfield, V.A.5
  • 5
    • 0026254541 scopus 로고
    • Rapid, non-radioactive screening for activating ras-oncogene mutations using PCR-primer introduced restriction analysis (PCR-PIRA)
    • Jacobson DR, Moskovits T (1991) Rapid, non-radioactive screening for activating ras-oncogene mutations using PCR-primer introduced restriction analysis (PCR-PIRA). PCR methods Appl 1:146-148.
    • (1991) PCR Methods Appl , vol.1 , pp. 146-148
    • Jacobson, D.R.1    Moskovits, T.2
  • 6
    • 49749174698 scopus 로고
    • Congenital deaf mutism, functional heart disease with prolongation of the Q-T interval, and sudden death
    • Jervell A, Lange-Nielsen F (1957) Congenital deaf mutism, functional heart disease with prolongation of the Q-T interval, and sudden death. Am Heart J 54:59-68.
    • (1957) Am Heart J , vol.54 , pp. 59-68
    • Jervell, A.1    Lange-Nielsen, F.2
  • 7
    • 0029130676 scopus 로고
    • Linkage of the long QT syndrome to the short arm of chromosome 11. Use of five highly polymorphic markers towards more detailed localization of the mutant gene
    • Kainulainen K, Swan H, Miettinen H, Viitasalo M, Rovamo L, Toivonen L, Kontula K (1995) Linkage of the long QT syndrome to the short arm of chromosome 11. Use of five highly polymorphic markers towards more detailed localization of the mutant gene. Hum Genet 96.395-400.
    • (1995) Hum Genet , vol.96 , pp. 395-400
    • Kainulainen, K.1    Swan, H.2    Miettinen, H.3    Viitasalo, M.4    Rovamo, L.5    Toivonen, L.6    Kontula, K.7
  • 8
    • 0025847714 scopus 로고
    • Linkage of cardiac arrhythmia, the long QT syndrome, and the Harvey ras-1 gene
    • Keating M, Atkinson D, Dunn C, Timothy K, Vincent GM, Leppert M (1991) Linkage of cardiac arrhythmia, the long QT syndrome, and the Harvey ras-1 gene. Science 252:704-706.
    • (1991) Science , vol.252 , pp. 704-706
    • Keating, M.1    Atkinson, D.2    Dunn, C.3    Timothy, K.4    Vincent, G.M.5    Leppert, M.6
  • 9
    • 0029887380 scopus 로고    scopus 로고
    • + channel blockade, β-adrenergic stimulation, and rapid pacing in a cellular model mimicking the SCN5A and HERG defects present in the long-QT syndrome
    • + channel blockade, β-adrenergic stimulation, and rapid pacing in a cellular model mimicking the SCN5A and HERG defects present in the long-QT syndrome. Circ Res 78.1009-1015.
    • (1996) Circ Res , vol.78 , pp. 1009-1015
    • Priori, S.G.1    Napolitano, C.2    Cantù, F.3    Brown, A.M.4    Schwartz, P.J.5
  • 10
    • 50549220479 scopus 로고
    • Congenital cardiac arrhythmia
    • Romano C (1965) Congenital cardiac arrhythmia. Lancet 1:658-659.
    • (1965) Lancet , vol.1 , pp. 658-659
    • Romano, C.1
  • 11
    • 0029840732 scopus 로고    scopus 로고
    • KVLQT1 mutations in three families with familial or sporadic long QT syndrome
    • Russell MW, Dick II M, Collins FS, Brody LC (1996) KVLQT1 mutations in three families with familial or sporadic long QT syndrome. Hum Mol Genet 5:1319-1324.
    • (1996) Hum Mol Genet , vol.5 , pp. 1319-1324
    • Russell, M.W.1    Dick II, M.2    Collins, F.S.3    Brody, L.C.4
  • 16
    • 0022374027 scopus 로고
    • The idiopathic long QT syndrome: Pathogenetic mechanisms and therapy
    • Schwartz PJ, Locati E (1985) The idiopathic long QT syndrome: pathogenetic mechanisms and therapy. Eur Heart J 6:103-114.
    • (1985) Eur Heart J , vol.6 , pp. 103-114
    • Schwartz, P.J.1    Locati, E.2
  • 17
    • 0002484026 scopus 로고
    • The long QT syndrome
    • Kulbertus HE, Wellens HJJ (eds): The Hague: M Nijhoff
    • Schwartz PJ (1990) The long QT syndrome. In Kulbertus HE, Wellens HJJ (eds): Sudden Death. The Hague: M Nijhoff, pp 358-378.
    • (1990) Sudden Death , pp. 358-378
    • Schwartz, P.J.1
  • 21
    • 0024437865 scopus 로고
    • Direct sequencing of affinity-captured amplified human DNA: Application to the detection of apolipoprotein E polymorphism
    • Svvänen A-C, Aalto-Setälä K, Söderlund H (1989) Direct sequencing of affinity-captured amplified human DNA: Application to the detection of apolipoprotein E polymorphism. FEBS Letters 258:71-74.
    • (1989) FEBS Letters , vol.258 , pp. 71-74
    • Svvänen, A.-C.1    Aalto-Setälä, K.2    Söderlund, H.3
  • 23
    • 0026759352 scopus 로고
    • The spectrum of symptoms and QT intervals in carriers of the gene for the long-QT syndrome
    • Vincent GM, Timothy KW, Leppert M, Keating M (1992) The spectrum of symptoms and QT intervals in carriers of the gene for the long-QT syndrome. N Engl J Med 327:885-887.
    • (1992) N Engl J Med , vol.327 , pp. 885-887
    • Vincent, G.M.1    Timothy, K.W.2    Leppert, M.3    Keating, M.4
  • 27
    • 0029992905 scopus 로고    scopus 로고
    • Genomic organization of the human SCN5A gene encoding the cardiac sodium channel
    • Wang Q, Li Z, Shen J, Keating MT (1996b) Genomic organization of the human SCN5A gene encoding the cardiac sodium channel. Genomics 34.9-16.
    • (1996) Genomics , vol.34 , pp. 9-16
    • Wang, Q.1    Li, Z.2    Shen, J.3    Keating, M.T.4
  • 28
    • 0000387603 scopus 로고
    • New familial cardiac syndrome in children
    • Ward OC (1964) New familial cardiac syndrome in children. J Ir Med Assoc 54:103-106.
    • (1964) J Ir Med Assoc , vol.54 , pp. 103-106
    • Ward, O.C.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.