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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 |
| Title : A novel clinical syndrome revealing a deficiency of the muscarinic M3 receptor - Pomper_2011_Neurology_76_451 |
| Author(s) : Pomper JK , Wilhelm H , Tayebati SK , Asmus F , Schule R , Sievert KD , Haensch CA , Melms A , Haarmeier T |
| Ref : Neurology , 76 :451 , 2011 |
| Abstract : Pomper_2011_Neurology_76_451 |
| ESTHER : Pomper_2011_Neurology_76_451 |
| PubMedSearch : Pomper_2011_Neurology_76_451 |
| PubMedID: 21282591 |