PHARC

 

Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism.                                                   (full – 2011)  http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2933347/?tool=pubmed

 

The serine hydrolases MAGL, ABHD6 and ABHD12 as guardians of

2‐arachidonoylglycerol signalling through cannabinoid receptors                     (full – 2011)

http://onlinelibrary.wiley.com/doi/10.1111/j.1748-1716.2011.02280.x/full

 

Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3       (full – 2012)                                               http://www.ojrd.com/content/7/1/59

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