Article
Molecular diagnosis of Huntington disease in Portugal: implications for genetic counselling and clinical practice.
European journal of human genetics : EJHG - 1 Nov 2003
Costa Maria do Carmo, Magalhães Paula, Ferreirinha Fátima, Guimarães Laura, Januário Cristina, Gaspar Isabel, Loureiro Leal, Vale José, Garrett Carolina, Regateiro Fernando, Magalhães Marina, Sousa Alda, Maciel Patrícia, Sequeiros Jorge
Abstract excerpt
Huntington disease (HD) is a neurodegenerative, autosomal dominant disorder of late-onset, caused by the expansion of a CAG repeat in the coding region of the gene. Ours is the reference laboratory for genetic testing in HD, in Portugal, since 1998; 90.1% of all 158 families known were identified for the first time, including patients with unusual presentation or without family history. A total of 338 genetic...
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