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


The American Journal of Human Genetics




September 1999

Copyright © 1999, Elsevier

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