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Mutation Report for: Q190X_human-ABHD5

Name Class
Q190X_human-ABHD5Gene_locushuman-ABHD5
Mode_of_mutationNatural mutant
Paper (2)
DiseaseChanarin-Dorfman syndrome
NewsNOVEMBER-15-2006
Commentc.C568T p.Q190X Neutral lipid storage disease with fatty liver and cholestasis

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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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