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A new human gene from the Down syndrome critical region encodes a proline-rich protein highly expressed in fetal brain and heart

1 Jan 1995

Abstract excerpt

Down syndrome is a major cause of mental retardation and congenital heart defects. While most of the affected individuals have three copies of chromosome 21, patients with partial trisomy 21 have also been described. These rare cases define a minimal region for the Down syndrome phenotype encompassing about 3 Mb around D21S55. By using a new method for the identification of coding sequences (Alu-splice PCR) we...

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PMID: 8595418
DOI: 10.1093/hmg/4.10.1935

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