Gene Locus : human-SERAC1
Mode of mutation : Natural mutant
Disease :
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment : c.698-9TG>AGTGATA p.L233X frameshift and premature termination of protein translation
| 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 |