Two Novel Mutations in ABHD12: Expansion of the Mutation Spectrum in PHARC and Assessment of Their Functional Effects - Chen, Dong-Hui; Naydenov, Alipi; Blankman, Jacqueline L.; Mefford, Heather C.; Davis, Marie; Sul, Youngmee; Barloon, A. Samuel; Bonkowski, Emily; Wolff, John; Matsushita, Mark; Smith, Corrine; Cravatt, Benjamin F.; et al. (Human mutation, 2013)
Keywords: ABHD12; Adult; Ataxia - diagnosis; Ataxia - genetics; Ataxia - metabolism; Cataract - diagnosis; Cataract - genetics; Cataract - metabolism; endocannabinoid; Expansion; Female; Gene Expression; Gene Order; GINS1; Heterozygote; Humans; hydrolase activity; Male; Monoacylglycerol Lipases - genetics; Monoacylglycerol Lipases - metabolism; Mutation; Pedigree; PHARC; Phenotype; Polyneuropathies - diagnosis; Polyneuropathies - genetics; Polyneuropathies - metabolism; Retinitis Pigmentosa - diagnosis; Retinitis Pigmentosa - genetics; Retinitis Pigmentosa - metabolism; Sequence Deletion; short stature; Transcription, Genetic; ABHD12; GINS1; endocannabinoid; short stature; PHARC; hydrolase activity