Double SMCHD1 variants in FSHD2: The synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2

  1. Van Den Boogaard, M.L.
  2. Lemmers, R.J.F.L.
  3. Camaño, P.
  4. Van Der Vliet, P.J.
  5. Voermans, N.
  6. Van Engelen, B.G.M.
  7. Lopez De Munain, A.
  8. Tapscott, S.J.
  9. Van Der Stoep, N.
  10. Tawil, R.
  11. Van Der Maarel, S.M.
Revue:
European Journal of Human Genetics

ISSN: 1476-5438,  1018-4813

Année de publication: 2016

Volumen: 24

Número: 1

Pages: 78-85

Type: Article

DOI: 10.1038/EJHG.2015.55 GOOGLE SCHOLAR lock_openAccès ouvert editor

Objetivos de desarrollo sostenible

La source de données: Scopus