Article
Preimplantation genetic diagnosis of spinocerebellar ataxia 3 by (CAG)(n) repeat detection.
Molecular human reproduction - 1 Jan 2004
Drüsedau M, Dreesen J C F M, De Die-Smulders C, Hardy K, Bras M, Dumoulin J C M, Evers J L H, Smeets H J M, Geraedts J P M, Herbergs J
Abstract excerpt
Spinocerebellar ataxia 3 (SCA3) is an autosomal dominant neurodegenerative disorder characterized by variable expression and a variable age of onset. SCA3/MJD (Machado-Joseph disease) is caused by an expansion of a (CAG)(n) repeat in the MJD1 gene on chromosome 14q32.1. A single cell PCR protocol has been developed for preimplantation genetic diagnosis (PGD) of SCA3 to select unaffected embryos on the basis of...
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