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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 |