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Mutation Report for: E214X_human-collq

E214X_human-collq
Gene_Locus|none
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
Comment|p.Glu214X
Kinetic parameters|none


References:
    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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