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钙离子通道与人类遗传病 被引量:4

Calcium channels and human genetic diseases
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出处 《中华儿科杂志》 CAS CSCD 北大核心 2004年第7期547-550,共4页 Chinese Journal of Pediatrics
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  • 1Ptacek LJ, Fu YH. Channelopathies: episodic disorders of the nervous system. Epilepsia, 2001,42(Suppl 5)35-43.
  • 2Lorenzon NM, Beam KG. Calcium channelopathies. Kideney Int, 2000,57:794-802.
  • 3Perez-Reyes E.Three for T: molecular analysis of the low voltage-activated calcium channel family. Cell. Mol. Life Sci , 1999,56:660-669.
  • 4Greenberg DA. Calcium channels in neurological disease . Ann Neurol, 1997,42:275-282.
  • 5Ophoff RA, Maagdenberg AM, Roon KI, et al. The impact of pharmacogenetics for migraine. Eur J Pharmacol, 2001,413:1-10.
  • 6Tottene A, Fellin T, Pagnutti S, et al. Familial hemiplegics migraine mutations increase Ca2+ influx through single human CaV2.1 channels and decrease maximal CaV2.1 current density in neurons. Proc Natl Acad Sci USA, 2002,99:13284-13289.
  • 7Ophoff RA,Terwindt GM, Vergouwe MN, et al. Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. Cell, 1996,87:543-552.
  • 8Jodice C, Mantuano E, Veneziano L, et al. Episodic ataxia type 2(EA2) and spinocerebellar ataxia type 6(SCA6) due to CAG repeat exoansion in the CACNA1A gene on chromosome 19p. Hum Mol Genet, 1997,6:1973-1978.
  • 9Restituito S, Thompson RM,Eliet J, et al. The polyglutamine expansion in spinocerebellar ataxia type 6 causes a beta subunit-specific enhanced activation of P/Q-type calcium channels in Xenopus oocytes. J Neurosci, 2000,20:6394-6403.
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