Title : Isolated PREPL deficiency associated with congenital myasthenic syndrome-22 - |
Author(s) : Laugwitz L , Redler S , Buchert R , Sturm M , Zeile I , Schara U , Wieczorek D , Haack T , Distelmaier F |
Ref : Klin Padiatr , 230 :281 , 2018 |
PubMedID: 29913539 |
Gene_locus related to this paper: human-PREPL |
Gene_locus related to this paper: human-PREPL |
Laugwitz L, Redler S, Buchert R, Sturm M, Zeile I, Schara U, Wieczorek D, Haack T, Distelmaier F (2018)
Isolated PREPL deficiency associated with congenital myasthenic syndrome-22
Klin Padiatr
230 :281
Laugwitz L, Redler S, Buchert R, Sturm M, Zeile I, Schara U, Wieczorek D, Haack T, Distelmaier F (2018)
Klin Padiatr
230 :281