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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 : Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies - Dohrn_2017_J.Neurochem_143_507 |
Author(s) : Dohrn MF , Glockle N , Mulahasanovic L , Heller C , Mohr J , Bauer C , Riesch E , Becker A , Battke F , Hortnagel K , Hornemann T , Suriyanarayanan S , Blankenburg M , Schulz JB , Claeys KG , Gess B , Katona I , Ferbert A , Vittore D , Grimm A , Wolking S , Schols L , Lerche H , Korenke GC , Fischer D , Schrank B , Kotzaeridou U , Kurlemann G , Drager B , Schirmacher A , Young P , Schlotter-Weigel B , Biskup S |
Ref : Journal of Neurochemistry , 143 :507 , 2017 |
Abstract : Dohrn_2017_J.Neurochem_143_507 |
ESTHER : Dohrn_2017_J.Neurochem_143_507 |
PubMedSearch : Dohrn_2017_J.Neurochem_143_507 |
PubMedID: 28902413 |
Gene_locus related to this paper: human-NDRG1 |