Chromosome 10q-linked FSHD identifies DUX4 as principal disease gene

BACKGROUND: Facioscapulohumeral dystrophy (FSHD) is an inherited muscular dystrophy clinically characterized by muscle weakness starting with the facial and upper extremity muscles. A disease model has been developed that postulates that failure in somatic repression of the transcription factor DUX4...

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Detalhes bibliográficos
Publicado no:J Med Genet
Main Authors: Lemmers, Richard JLF, van der Vliet, Patrick J, Blatnik, Ana, Balog, Judit, Zidar, Janez, Henderson, Don, Goselink, Rianne, Tapscott, Stephen J., Voermans, Nicol C, Tawil, Rabi, Padberg, George W, van Engelen, Baziel GM, van der Maarel, Silvère M
Formato: Artigo
Idioma:Inglês
Publicado em: 2022
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8273184/
https://ncbi.nlm.nih.gov/pubmed/33436523
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2020-107041
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