Congenital end-plate acetylcholinesterase deficiency caused by a nonsense mutation and an A→G splice-donor-site mutation at position +3 of the collagenlike-tail-subunit gene (COLQ): How does G at position +3 result in aberrant splicing?

Kinji Ohno, Joan M. Brengman, Kevin J. Felice, David R. Cornblath, Andrew G. Engel

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Medicine & Life Sciences