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PGD in the Lab for Triplet Repeat Diseases - Myotonic Dystrophy, Huntington's Disease and Fragile-X Syndrome

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Date 2001 Sep 29
PMID 11576738
Citations 20
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Abstract

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.

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