共 127 条
[1]
Browne D.L.(1994)Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, Nature Genet. 8 136-140
[2]
Gancher S.T.(1999)A novel sodium channel mutation in a family with hypokalemic periodic paralysis Neurology 53 1932-1936
[3]
Nutt J.G.(1996)Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1 Nature Genet. 12 248-253
[4]
Brunt E.R.(1998)Pore mutation in a novel KQT‐like potassium channel gene in an idiopathic epilepsy family Nature Genet. 18 53-55
[5]
Smith E.A.(1994)Isolation and partial characterization of a chloride channel gene which is expressed in kidney and is a candidate for Dent's disease (an X‐linked hereditary nephrolithiasis) Hum. Mol. Genet. 3 2053-2059
[6]
Kramer P.(1990)Hyperkalemic periodic paralysis and the adult muscle sodium channel α‐subunit gene Science 250 1000-1002
[7]
Litt M.(1995)Reconstitution of IKATP: an inward rectifier subunit plus the sulfonylurea receptor Science 270 1166-1170
[8]
Bulman D.E.(1992)The skeletal muscle chloride channel in dominant and recessive human myotonia Science 257 797-800
[9]
Scoggan K.A.(1998)Total colour blindness is caused by mutations in the gene encoding the α‐subunit of the cone photoreceptor cGMP‐gated cation channel Nature Genet. 19 257-259
[10]
van Oene M.D.(2000)Mutations in the Hum. Mol. Genet. 9 2107-2116