Broadening the phenotype associated with mutations in UPF3B: Two further cases with renal dysplasia and variable developmental delay
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics,General Medicine
Reference11 articles.
1. Y14 and hUPF3b form an NMD-activating complex;Gehring;Mol. Cell,2003
2. Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation;Tarpey;Nat. Genet.,2007
3. FG syndrome: report of three new families with linkage to Xq12-q22.1;Graham;Am. J. Med. Genet.,1998
4. Profiling gene expression in kidney development;Dekel;Nephron Exp. Nephrol.,2003
5. Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disability;Nguyen;Mol. Psychiatry,2011
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