The spectrum of mutations causing end-plate acetylcholinesterase deficiency.
The end-plate species of acetylcholinesterase (AChE) is an asymmetric enzyme consisting of a collagenic tail subunit composed of three collagenic strands (ColQ), each attached to a tetramer of the T isoform of the catalytic subunit (AChE(T)) via a proline-rich attachment domain. The principal functi...
Main Authors: | Ohno, K, Engel, A, Brengman, J, Shen, X, Heidenreich, F, Vincent, A, Milone, M, Tan, E, Demirci, M, Walsh, P, Nakano, S, Akiguchi, I |
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Format: | Journal article |
Language: | English |
Published: |
2000
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