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| Title : First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol trafficking - Rodriguez-Garcia_2016_Neurogenetics_17_51 |
| Author(s) : Rodriguez-Garcia ME , Martin-Hernandez E , de Aragon AM , Garcia-Silva MT , Quijada-Fraile P , Arenas J , Martin MA , Martinez-Azorin F |
| Ref : Neurogenetics , 17 :51 , 2016 |
| Abstract : Rodriguez-Garcia_2016_Neurogenetics_17_51 |
| ESTHER : Rodriguez-Garcia_2016_Neurogenetics_17_51 |
| PubMedSearch : Rodriguez-Garcia_2016_Neurogenetics_17_51 |
| PubMedID: 26445863 |
| Gene_locus related to this paper: human-SERAC1 |
| Title : Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria - Tort_2013_Mol.Genet.Metab_110_73 |
| Author(s) : Tort F , Garcia-Silva MT , Ferrer-Cortes X , Navarro-Sastre A , Garcia-Villoria J , Coll MJ , Vidal E , Jimenez-Almazan J , Dopazo J , Briones P , Elpeleg O , Ribes A |
| Ref : Mol Genet Metab , 110 :73 , 2013 |
| Abstract : Tort_2013_Mol.Genet.Metab_110_73 |
| ESTHER : Tort_2013_Mol.Genet.Metab_110_73 |
| PubMedSearch : Tort_2013_Mol.Genet.Metab_110_73 |
| PubMedID: 23707711 |
| Gene_locus related to this paper: human-SERAC1 |