Bakker, C.E.

protein fxr 2p knockout x syndrome mouse fxr 1p syndrome fxr proteins expression fmr 1 gene genet wild-type level instability study length response oostra allele retardation result mutation transmission wild-type mice expansion sertoli brain figure model animal fmrp expression sertoli cell proliferation genetic region patient sertoli cells knockout mice antibody activity muscle phenotype glucosidase isoform sequence analysis tissue localization signal seizure retardation protein disease cytoplasm domain receptor export fmr 1 mrna function number increase mouse model warren fxr 1p isoforms difference contraction testi promoter nucleolar fmr 1 inhibition fxr 2 willemsen premutation fmrpi 304n nucleolu transfected heart human glycogen x patients interaction