De Novo Facioscapulohumeral Muscular Dystrophy: Frequent Somatic Mosaicism, Sex-Dependent Phenotype, and the Role of Mitotic Transchromosomal Repeat Interaction between Chromosomes 4 and 10

Autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) is caused by deletion of most copies of the 3.3-kb subtelomeric D4Z4 repeat array on chromosome 4q. The molecular mechanisms behind the deletion and the high proportion of new mutations have remained elusive. We surveyed 35 de novo FSH...

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Hoofdauteurs: van der Maarel, Silvère M., Deidda, Giancarlo, Lemmers, Richard J. L. F., van Overveld, Petra G. M., van der Wielen, Michiel, Hewitt, Jane E., Sandkuijl, Lodewijk, Bakker, Bert, van Ommen, Gert-Jan B., Padberg, George W., Frants, Rune R.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: The American Society of Human Genetics 2000
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1288331/
https://ncbi.nlm.nih.gov/pubmed/10631134
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