SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain

Những quyển sách tương tự

• FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation
  Bằng: Mul, Karlien, et al.
  Được phát hành: (2018)
• SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
  Bằng: Shaw, Natalie D, et al.
  Được phát hành: (2017)
• Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2
  Bằng: van den Boogaard, Marlinde L, et al.
  Được phát hành: (2016)
• The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1
  Bằng: Sacconi, Sabrina, et al.
  Được phát hành: (2013)
• O-1. High frequency of hypomethylation in patients with fshd-like phenotype
  Bằng: Sacconi, S, et al.
  Được phát hành: (2009)