Uniparental disomy of chromosome 13q causing homozygosity for the 35delG mutation in the gene encoding connexin26 (GJB2) results in prelingual hearing impairment in two unrelated Spanish patients

Những quyển sách tương tự

• C.35delG/ GJB2 and del(GJB6-D13S1830) mutations in Croatians with prelingual non-syndromic hearing impairment
  Bằng: Medica, Igor, et al.
  Được phát hành: (2005)
• Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss
  Bằng: Migliosi, V, et al.
  Được phát hành: (2002)
• A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment
  Bằng: Van Laer, L, et al.
  Được phát hành: (2001)
• Uniparental disomy in Robertsonian translocations: strategies for uniparental disomy testing
  Bằng: Yip, Moh-Ying
  Được phát hành: (2014)
• Paternal uniparental disomy in monozygotic twins discordant for hemihypertrophy
  Bằng: West, P, et al.
  Được phát hành: (2003)