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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. EngelVolume:
65
Year:
1999
Language:
english
DOI:
10.1086/302551
File:
PDF, 586 KB
english, 1999