相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Structure of the human ClC-1 chloride channel
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C. Supanchart et al.
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Weiguo Sui et al.
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Large movement in the C terminus of CLC-0 chloride channel during slow gating
Ekaterina A. Bykova et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2006)
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PF Lange et al.
NATURE (2006)
Chloride/proton antiporter activity of mammalian CLC proteins ClC-4 and ClC-5
A Picollo et al.
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Voltage-dependent electrogenic chloride/proton exchange by endosomal CLC proteins
O Scheel et al.
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CURRENT OPINION IN NEUROBIOLOGY (2005)
Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration
D Kasper et al.
EMBO JOURNAL (2005)
Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human
N Chalhoub et al.
NATURE MEDICINE (2003)
Molecular structure and physiological function of chloride channels
TJ Jentsch et al.
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R Dutzler et al.
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E Cleiren et al.
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CELL (2001)
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