| Title : Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) caused by novel mutations in SERAC1 - Sarig_2013_Am.J.Med.Genet.A_161A_2204 |
| Author(s) : Sarig O , Goldsher D , Nousbeck J , Fuchs-Telem D , Cohen-Katsenelson K , Iancu TC , Manov I , Saada A , Sprecher E , Mandel H |
| Ref : American Journal of Medicine Genet A , 161A :2204 , 2013 |
| Abstract : |
| PubMedSearch : Sarig_2013_Am.J.Med.Genet.A_161A_2204 |
| PubMedID: 23918762 |
| Gene_locus related to this paper: human-SERAC1 |
| Title : Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) caused by novel mutations in SERAC1 - Sarig_2013_Am.J.Med.Genet.A_161A_2204 |
| Author(s) : Sarig O , Goldsher D , Nousbeck J , Fuchs-Telem D , Cohen-Katsenelson K , Iancu TC , Manov I , Saada A , Sprecher E , Mandel H |
| Ref : American Journal of Medicine Genet A , 161A :2204 , 2013 |
| Abstract : |
| PubMedSearch : Sarig_2013_Am.J.Med.Genet.A_161A_2204 |
| PubMedID: 23918762 |
| Gene_locus related to this paper: human-SERAC1 |
| Title : Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) caused by novel mutations in SERAC1 - Sarig_2013_Am.J.Med.Genet.A_161A_2204 |
| Author(s) : Sarig O , Goldsher D , Nousbeck J , Fuchs-Telem D , Cohen-Katsenelson K , Iancu TC , Manov I , Saada A , Sprecher E , Mandel H |
| Ref : American Journal of Medicine Genet A , 161A :2204 , 2013 |
| Abstract : |
| PubMedSearch : Sarig_2013_Am.J.Med.Genet.A_161A_2204 |
| PubMedID: 23918762 |
| Gene_locus related to this paper: human-SERAC1 |