| 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 |
| Gene_locus related to this paper: human-SERAC1 |
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 (2018)
SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family
Journal of Medical Genetics
55 :39
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 (2018)
Journal of Medical Genetics
55 :39