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Academic Press

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Molecular Cloning of the Human p120 ctn Catenin Gene (CTNND1): Expression of Multiple Alternatively Spliced Isoforms

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De novo balanced translocation (2;10)(q24;q22) associated with mental retardation

By Santos C.B.   Discepoli G.   Pigliapoco F.   Boy R.   Pimentel M.M.G.  

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FACL4, a New Gene Encoding Long-Chain Acyl-CoA Synthetase 4, Is Deleted in a Family with Alport Syndrome, Elliptocytosis, and Mental Retardation

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Identification and Characterization of a Highly Conserved Protein Absent in the Alport Syndrome (A), Mental Retardation (M), Midface Hypoplasia (M), and Elliptocytosis (E) Contiguous Gene Deletion Syndrome (AMME)

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