Report for Mandel H

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References (1)

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

Report for Mandel H

General

References (1)

1. 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