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G.O.3 Contraction-dependent (FSHD1) and independent (FSHD2) epigenetic changes of D4Z4 unify FSHD

โœ Scribed by J.C. de Greef; R.J.L. Lemmers; B.G.M. van Engelen; S. Sacconi; S.L. Venance; R.R. Frants; R. Tawil; S.M. van der Maarel


Book ID
116793918
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
43 KB
Volume
19
Category
Article
ISSN
0960-8966

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Common epigenetic changes of D4Z4 in con
โœ Jessica C. de Greef; Richard J.L.F. Lemmers; Baziel G.M. van Engelen; Sabrina Sa ๐Ÿ“‚ Article ๐Ÿ“… 2009 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 462 KB

Facioscapulohumeral muscular dystrophy (FSHD), caused by partial deletion of the D4Z4 macrosatellite repeat on chromosome 4q, has a complex genetic and epigenetic etiology. To develop FSHD, D4Z4 contraction needs to occur on a specific genetic background. Only contractions associated with the 4qA161