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| Title : Early onset of Chanarin-Dorfman syndrome with severe liver involvement in a patient with a complex rearrangement of ABHD5 promoter - Missaglia_2014_BMC.Med.Genet_15_32 |
| Author(s) : Missaglia S , Valadares ER , Moro L , Faguntes ED , Quintao Roque R , Giardina B , Tavian D |
| Ref : BMC Med Genet , 15 :32 , 2014 |
| Abstract : Missaglia_2014_BMC.Med.Genet_15_32 |
| ESTHER : Missaglia_2014_BMC.Med.Genet_15_32 |
| PubMedSearch : Missaglia_2014_BMC.Med.Genet_15_32 |
| PubMedID: 24628803 |
| Gene_locus related to this paper: human-ABHD5 |