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Autor:
Francesca Sartor, Tahani Mohammed A Alrahbeni, Colin D. McCaig, Berndt Müller, Zosia Miedzybrodzka, Jihan Anderson
Publikováno v:
Molecular Brain
Background Mutation in the UPF3B gene on chromosome X is implicated in neurodevelopmental disorders including X-linked intellectual disability, autism and schizophrenia. The protein UPF3B is involved in the nonsense-mediated mRNA decay pathway (NMD)