Prenatal diagnosis of Machado-Joseph disease by direct mutation analysis

MJD is the most frequent dominant ataxia and an incapacitating disorder. Onset is most frequently during the reproductive years, and genetic counselling is its only means of prevention. The causative mutation—an expansion of a (CAG)n on chromosome 14q32.1—can now be directly detected. We now report...

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Veröffentlicht in:Prenatal diagnosis 1998-06, Vol.18 (6), p.611-617
Hauptverfasser: Sequeiros, Jorge, Maciel, Patrícia, Taborda, Filomena, Lêdo, Susana, Rocha, José Carlos, Lopes, Alice, Reto, Fátima, Fortuna, Ana Maria, Rousseau, Marylène, Fleming, Manuela, Coutinho, Paula, Rouleau, Guy A., Jorge, Carlos Santos
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Sprache:eng
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