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?

✍ Scribed by Kinji Ohno; Joan M. Brengman; Kevin J. Felice; David R. Cornblath; Andrew G. Engel

• Book ID: 117852975
• Publisher: American Society of Human Genetics
• Year: 1999
• Tongue: English
• Weight: 586 KB
• Volume: 65
• Category: Article
• ISSN: 0002-9297
• DOI: 10.1086/302551