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| Title : Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism - Fiskerstrand_2010_Am.J.Hum.Genet_87_410 |
| Author(s) : Fiskerstrand T , H'Mida-Ben Brahim D , Johansson S , M'Zahem A , Haukanes BI , Drouot N , Zimmermann J , Cole AJ , Vedeler C , Bredrup C , Assoum M , Tazir M , Klockgether T , Hamri A , Steen VM , Boman H , Bindoff LA , Koenig M , Knappskog PM |
| Ref : American Journal of Human Genetics , 87 :410 , 2010 |
| Abstract : Fiskerstrand_2010_Am.J.Hum.Genet_87_410 |
| ESTHER : Fiskerstrand_2010_Am.J.Hum.Genet_87_410 |
| PubMedSearch : Fiskerstrand_2010_Am.J.Hum.Genet_87_410 |
| PubMedID: 20797687 |
| Gene_locus related to this paper: human-ABHD12 |
| Title : Neurological features and enzyme therapy in patients with endocrine and exocrine pancreas dysfunction due to CEL mutations - Vesterhus_2008_Diabetes.Care_31_1738 |
| Author(s) : Vesterhus M , Raeder H , Aurlien H , Gjesdal CG , Bredrup C , Holm PI , Molven A , Bindoff L , Berstad A , Njolstad PR |
| Ref : Diabetes Care , 31 :1738 , 2008 |
| Abstract : Vesterhus_2008_Diabetes.Care_31_1738 |
| ESTHER : Vesterhus_2008_Diabetes.Care_31_1738 |
| PubMedSearch : Vesterhus_2008_Diabetes.Care_31_1738 |
| PubMedID: 18544793 |
| Gene_locus related to this paper: human-CEL |