Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies
假定的钙激活氯离子通道 Anoctamin 5 的隐性突变会导致近端 LGMD2L 和远端 MMD3 肌营养不良症。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2009.12.013
Bolduc, Véronique; Marlow, Gareth; Boycott, Kym M; Saleki, Khalil; Inoue, Hiroshi; Kroon, Johan; Itakura, Mitsuo; Robitaille, Yves; Parent, Lucie; Baas, Frank; Mizuta, Kuniko; Kamata, Nobuyuki; Richard, Isabelle; Linssen, Wim H J P; Mahjneh, Ibrahim; de Visser, Marianne; Bashir, Rumaisa; Brais, Bernard
