Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism

Frédéric Laumonnier,Cheryl Shoubridge,C Antar,Lam Son Nguyen,H. Van Esch,Tjitske Kleefstra,Sylvain Briault,Jean-Pierre Fryns,Ben C.J. Hamel,J. Chelly,H.H. Ropers,Nathalie Ronce,Sophie Blesson,C. Moraine,Jozef Gecz,Martine Raynaud

Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism

2010

Frédéric Laumonnier
Cheryl Shoubridge
C Antar
Lam Son Nguyen
H. Van Esch
Tjitske Kleefstra
Sylvain Briault
Jean-Pierre Fryns
Ben C.J. Hamel
J. Chelly
H.H. Ropers
Nathalie Ronce
Sophie Blesson
C. Moraine
Jozef Gecz
Martine Raynaud

Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism

Keywords:

Autism
X chromosome
UPF3B gene
Neuroscience
Genetics
Nonsense-mediated decay
Biology
Coding region
Nonsense mutation
RNA-binding protein
Missense mutation
mRNA surveillance
Mutation
Dendritic spine

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