A novel nonsense mutation inCUL4Bgene in three brothers with X-linked mental retardation syndrome
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2009.01331.x/fullpdf
Reference7 articles.
1. A new X-linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25;Cabezas;J Med Genet,2000
2. Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor;Tarpey;Am J Hum Genet,2007
3. Mutation in CUL4B, which encodes a member of cullin-RING ubiquitin ligase complex, causes X-linked mental retardation;Zou;Am J Hum Genet,2007
4. A non-organic and non-enzymatic extraction method gives higher yields of genomic DNA from whole-blood samples than do nine other methods tested;Lahiri;J Biochem Biophys Methods,1992
5. De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome;Matsuura;Nat Genet,1997
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