A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain

Παρόμοια τεκμήρια

• Novel Loss-of-Function Mutations in COCH Cause Autosomal Recessive Nonsyndromic Hearing Loss
  ανά: Booth, Kevin T, κ.ά.
  Έκδοση: (2020)
• SNP Linkage Analysis and Whole Exome Sequencing Identify a Novel POU4F3 Mutation in Autosomal Dominant Late-Onset Nonsyndromic Hearing Loss (DFNA15)
  ανά: Kim, Hee-Jin, κ.ά.
  Έκδοση: (2013)
• The effect of novel mutations on the structure and enzymatic activity of unconventional myosins associated with autosomal dominant non-syndromic hearing loss
  ανά: Tae-Jun Kwon, κ.ά.
  Έκδοση: (2014-01-01)
• The effect of novel mutations on the structure and enzymatic activity of unconventional myosins associated with autosomal dominant non-syndromic hearing loss
  ανά: Kwon, Tae-Jun, κ.ά.
  Έκδοση: (2014)
• A novel COCH mutation, V104del, impairs folding of the LCCL domain of cochlin and causes progressive hearing loss
  ανά: Nagy, I, κ.ά.
  Έκδοση: (2004)