PGD in the lab for triplet repeat diseases - myotonic dystrophy, Huntington's disease and Fragile-X syndrome.

Sara Seneca, Andre Van Steirteghem, Martine De Rycke, Anick De Vos, Veerle Goossens, Ingeborg Liebaers, Karen Sermon, Willy Lissens, Hilde Van De Velde, Anna Ferraretti (Redacteur), Luca Gianaroli (Redacteur), Cristini Magli (Redacteur), Peter Platteau, Joe Simpson (Redacteur), Yury Verlinsky (Redacteur)

Onderzoeksoutput: Meeting abstract (Journal)

66 Citaten (Scopus)

Samenvatting

Myotonic dystrophy (DM), Huntington's disease (HD) and Fragile X syndrome (FRAXA) are three monogenic disease which are caused by so-called dynamic mutations. These mutations are caused by triplet repeats inside or in the vicinity of the gene which have the tendency to expand beyond the normal range thus disrupting the normal functioning of the gene. We describe here our experiences from 1995 to May 2000 with PGD for these three triplet repeat diseases.
Originele taal-2English
Pagina's (van-tot)77-85
Aantal pagina's9
TijdschriftMol Cell Endocrinol
Volume183
Nummer van het tijdschriftOctober
StatusPublished - okt 2001
EvenementUnknown -
Duur: 1 okt 2001 → …

Bibliografische nota

Mol Cell Endocrinol, 183 suppl 1, S77-85., 2001.

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