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?
- 1 September 1999
- journal article
- case report
- Published by Elsevier in American Journal of Human Genetics
- Vol. 65 (3) , 635-644
- https://doi.org/10.1086/302551
Abstract
No abstract availableKeywords
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