Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2

Facioscapulohumeral muscular dystrophy, known in genetic forms FSHD1 and FSHD2, is associated with D4Z4 repeat array chromatin relaxation and somatic derepression of DUX4 located in D4Z4. A complete copy of DUX4 is present on 4qA chromosomes, but not on the D4Z4-like repeats of chromosomes 4qB or 10...

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Dades bibliogràfiques
Publicat a:Hum Mol Genet
Autors principals: Lemmers, Richard J L F, van der Vliet, Patrick J, Vreijling, Jeroen P, Henderson, Don, van der Stoep, Nienke, Voermans, Nicol, van Engelen, Baziel, Baas, Frank, Sacconi, Sabrina, Tawil, Rabi, van der Maarel, Silvère M
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2018
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General Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6168970/
https://ncbi.nlm.nih.gov/pubmed/30281091
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddy236
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