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Mutation Report for: S17fsX1_human-ABHD5

Name Class
S17fsX1_human-ABHD5Gene_locushuman-ABHD5
Mode_of_mutationNatural mutant
PaperRedaelli_2010_Orphanet.J.Rare.Dis_5_33
Ronchetti_2008_J.Hepatol_49_474
Cakir_2010_Acta.Paediatr_99_1592
Huigen_2015_Mol.Genet.Metab_114_51
DiseaseChanarin-Dorfman syndrome
NewsJANUARY-02-2013
Commentp.S17fsX1 p.Ser17fsTer1 c.47+1G>A IVS1+1G>A splice site mutation G to A mutation in the GT donor splice site dinucleotide. retention of intron 1 giving a stop codon. The protein has only 17 aa (fs17stop)

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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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