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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 |
Title : A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis - Israeli_2011_Am.J.Hum.Genet_88_482 |
Author(s) : Israeli S , Khamaysi Z , Fuchs-Telem D , Nousbeck J , Bergman R , Sarig O , Sprecher E |
Ref : American Journal of Human Genetics , 88 :482 , 2011 |
Abstract : Israeli_2011_Am.J.Hum.Genet_88_482 |
ESTHER : Israeli_2011_Am.J.Hum.Genet_88_482 |
PubMedSearch : Israeli_2011_Am.J.Hum.Genet_88_482 |
PubMedID: 21439540 |
Gene_locus related to this paper: human-LIPN |