Gene Locus : human-SERAC1
Mode of mutation : Natural mutant
Disease : MEGDEL syndrome
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 : p.R368X p.Arg368Ter c.1102C>T found in a compound heterozygote classical MGDEL patient together with c.1822_1828+10delins_human-SERAC1
| Title : SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family - Roeben_2018_J.Med.Genet_55_39 |
| Author(s) : Roeben B , Schule R , Ruf S , Bender B , Alhaddad B , Benkert T , Meitinger T , Reich S , Bohringer J , Langhans CD , Vaz FM , Wortmann SB , Marquardt T , Haack TB , Krageloh-Mann I , Schols L , Synofzik M |
| Ref : Journal of Medical Genetics , 55 :39 , 2018 |
| Abstract : Roeben_2018_J.Med.Genet_55_39 |
| ESTHER : Roeben_2018_J.Med.Genet_55_39 |
| PubMedSearch : Roeben_2018_J.Med.Genet_55_39 |
| PubMedID: 28916646 |
| Gene_locus related to this paper: human-SERAC1 |