A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment

Gelijkaardige items

• Prevalence and Evolutionary Origins of the del(GJB6-D13S1830) Mutation in the DFNB1 Locus in Hearing-Impaired Subjects: a Multicenter Study
  door: del Castillo, Ignacio, et al.
  Gepubliceerd in: (2003)
• A NOVEL DFNB1 DELETION ALLELE SUPPORTS THE EXISTENCE OF A DISTANT CIS-REGULATORY REGION THAT CONTROLS GJB2 AND GJB6 EXPRESSION
  door: Wilch, Ellen, et al.
  Gepubliceerd in: (2010)
• A genotype-phenotype correlation for GJB2 (connexin 26) deafness
  door: Cryns, K, et al.
  Gepubliceerd in: (2004)
• Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.
  door: Kelley, P M, et al.
  Gepubliceerd in: (1998)
• Expression of GJB2 and GJB6 Is Reduced in a Novel DFNB1 Allele
  door: Wilch, Ellen, et al.
  Gepubliceerd in: (2006)