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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 : 3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency - Rokicki_2017_Clin.Chim.Acta_471_95 |
| Author(s) : Rokicki D , Pajdowska M , Trubicka J , Thong MK , Ciara E , Piekutowska-Abramczuk D , Pronicki M , Sikora R , Haidar R , Oltarzewski M , Jablonska E , Muthukumarasamy P , Sthaneswar P , Gan CS , Krajewska-Walasek M , Carrozzo R , Verrigni D , Semeraro M , Rizzo C , Taurisano R , Alhaddad B , Kovacs-Nagy R , Haack TB , Dionisi-Vici C , Pronicka E , Wortmann SB |
| Ref : Clinica Chimica Acta , 471 :95 , 2017 |
| Abstract : Rokicki_2017_Clin.Chim.Acta_471_95 |
| ESTHER : Rokicki_2017_Clin.Chim.Acta_471_95 |
| PubMedSearch : Rokicki_2017_Clin.Chim.Acta_471_95 |
| PubMedID: 28526534 |