Mechanism and Timing of Mitotic Rearrangements in the Subtelomeric D4Z4 Repeat Involved in Facioscapulohumeral Muscular Dystrophy

Autosomal dominant facioscapulohumeral muscular dystrophy (FSHD1A) is associated with contractions of the polymorphic D4Z4 repeat on chromosome 4qter. Almost half of new FSHD mutations occur postfertilization, resulting in somatic mosaicism for D4Z4. Detailed D4Z4 analysis of 11 mosaic individuals w...

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Bibliografiset tiedot
Päätekijät: Lemmers, Richard J. L. F., van Overveld, Petra G. M., Sandkuijl, Lodewijk A., Vrieling, Harry, Padberg, George W., Frants, Rune R., van der Maarel, Silvère M.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: The American Society of Human Genetics 2004
Aiheet:
Articles
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC1182007/
https://ncbi.nlm.nih.gov/pubmed/15154112
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