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Mutation Report for: R234X_human-ABHD5

Name Class
R234X_human-ABHD5Gene_locushuman-ABHD5
Mode_of_mutationNatural mutant
PaperSchleinitz_2005_Arch.Dermatol_141_798
Redaelli_2010_Orphanet.J.Rare.Dis_5_33
Takeichi_2016_J.Dermatol.Sci_81_134
DiseaseChanarin-Dorfman syndrome
NewsNOVEMBER-15-2006
Commentp.R234X p.Arg234Ter c.700C>T in exon 5. A 42-year old patient with muscle weakness genital ichthyosiform erythroderma hearing loss bilateral subcapsular cataract. Compound heterozygote for p.H82R and p.R234X. A patient compound heterozygote for R280X in exon6 and R234X

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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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