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Intragenic loss of function mutations demonstrate the primary role of FMR1 in fragile X syndrome

Fragile X SyndromeGenome InstabilityDevelopmental BiologyMendelian DisorderGenetic DisorderGeneticsFragile X SpectrumFunction MutationsMolecular GeneticsIntragenic LossDisease Gene IdentificationMedicineEpigeneticsFragile X PremutationDevelopmental Delay