A missense variant in the KH0-domain of FMRP downregulates the protein in a patient with the clinical hallmarks of fragile X syndrome
作者
Claudio Peter D’Incal,Bram Dierickx,Claudia Vingerhoets,Mieke M. van Haelst,Dale Annear,Anke Van Dijck,Lina Bastini,Anthony Konings,Ellen Elinck,Ligia Mateiu,Agnies M. van Eeghen,R. Frank Kooy