Article
Protein and gene expression analysis of Phf6, the gene mutated in the Börjeson-Forssman-Lehmann Syndrome of intellectual disability and obesity.
Gene expression patterns : GEP - 1 Oct 2007
Voss Anne K, Gamble Robin, Collin Caitlin, Shoubridge Cheryl, Corbett Mark, Gécz Jozef, Thomas Tim
Abstract excerpt
The Plant homeodomain finger gene 6 (PHF6) was identified as the gene mutated in patients suffering from the Börjeson-Forssman-Lehmann Syndrome (BFLS), an X-linked mental retardation disorder. BFLS mental disability is evident from an early age, suggesting a developmental brain defect. The PHF6 protein contains four nuclear localisation signals and two imperfect plant homeodomain (PHD) fingers similar to the...
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