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| Title : Cerebral lipid accumulation in Chanarin-Dorfman Syndrome - Huigen_2015_Mol.Genet.Metab_114_51 |
| Author(s) : Huigen MC , van der Graaf M , Morava E , Dassel AC , van Steensel MA , Seyger MM , Wevers RA , Willemsen MA |
| Ref : Mol Genet Metab , 114 :51 , 2015 |
| Abstract : Huigen_2015_Mol.Genet.Metab_114_51 |
| ESTHER : Huigen_2015_Mol.Genet.Metab_114_51 |
| PubMedSearch : Huigen_2015_Mol.Genet.Metab_114_51 |
| PubMedID: 25468645 |
| Title : Chanarin-Dorfman syndrome caused by a novel splice site mutation in ABHD5 - |
| Author(s) : Badeloe S , van Geel M , Nagtzaam I , Rubio-Gozalbo ME , Oei RL , Steijlen PM , van Steensel MA |
| Ref : Br J Dermatol , 158 :1378 , 2008 |
| PubMedID: 18410411 |
| Gene_locus related to this paper: human-ABHD5 |