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Mutation Report for: T253R_human-ABHD12
Name
Class
T253R_human-ABHD12
Gene_locus
human-ABHD12
Mode_of_mutation
Natural mutant
Paper
Tingaud-Sequeira_2017_Neurobiol.Dis_98_36
Disease
PHARC Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
Comment
Missense Homozygous p.T253R c.758G>C Exon 8, characterized in ABHD12 from a young patient with PHARC disease
Send your questions or comments to :
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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