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| Title : Mitochondrial hepato-encephalopathy due to deficiency of QIL1\/MIC13 (C19orf70), a MICOS complex subunit - Zeharia_2016_Eur.J.Hum.Genet_24_1778 |
| Author(s) : Zeharia A , Friedman JR , Tobar A , Saada A , Konen O , Fellig Y , Shaag A , Nunnari J , Elpeleg O |
| Ref : Eur J Hum Genet , 24 :1778 , 2016 |
| Abstract : Zeharia_2016_Eur.J.Hum.Genet_24_1778 |
| ESTHER : Zeharia_2016_Eur.J.Hum.Genet_24_1778 |
| PubMedSearch : Zeharia_2016_Eur.J.Hum.Genet_24_1778 |
| PubMedID: 27485409 |
| 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 : Sarig_2013_Am.J.Med.Genet.A_161A_2204 |
| ESTHER : Sarig_2013_Am.J.Med.Genet.A_161A_2204 |
| PubMedSearch : Sarig_2013_Am.J.Med.Genet.A_161A_2204 |
| PubMedID: 23918762 |
| Gene_locus related to this paper: human-SERAC1 |