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Mutation Report for: T441K_human-collq

T441K_human-collq
Gene_Locus|none
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
Comment|p.Thr441Lys
Kinetic parameters|none


References:
    Title: Synaptic congenital myasthenic syndrome in three patients due to a novel missense mutation (T441A) of the COLQ gene
    Muller JS, Petrova S, Kiefer R, Stucka R, Konig C, Baumeister SK, Huebner A, Lochmuller H, Abicht A
    Ref: Neuropediatrics, 35:183, 2004 : 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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