Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity

OBJECTIVE: To identify the genetic and epigenetic defects in patients presenting with a facioscapulohumeral (FSHD) clinical phenotype without D4Z4 contractions on chromosome 4q35 tested by linear gel electrophoresis (LGE) and Southern blot analysis. DESIGN AND PATIENTS: We studied 16 patients displa...

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Detaylı Bibliyografya
Asıl Yazarlar: Sacconi, Sabrina, Camaño, Pilar, de Greef, Jessica C., Lemmers, Richard J. L. F., Salviati, Leonardo, Boileau, Pascal, de Munain Arregui, Adolfo Lopez, van der Maarel, Silvère M., Desnuelle, Claude
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2011
Konular:
Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC3560331/
https://ncbi.nlm.nih.gov/pubmed/21984748
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2011-100101
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