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Mutation Report for: R282X_human-collq

Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Kinetic parameters|none

    Title: 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?
    Ohno K, Brengman JM, Felice KJ, Cornblath DR, Engel AG
    Ref: American Journal of Human Genetics, 65:635, 1999 : PubMed


    Title: Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme
    Ohno K, Brengman J, Tsujino A, Engel AG
    Ref: Proceedings of the National Academy of Sciences of the United States of America, 95:9654, 1998 : PubMed


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Mail to: Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.
Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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