A missense mutation in the type II hair keratin hHb3 is associated with monilethrix

Ítems similars

• Expression of a truncated form of hHb1 hair keratin in human breast carcinomas.
  per: Régnier, C. H., et al.
  Publicat: (1998)
• A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix()
  per: Wu, Jin, et al.
  Publicat: (2011)
• Molecular Genetic Approaches to Skin Disease: Keratins and Keratinisation
  per: van Steensel, M A M, et al.
  Publicat: (1997)
• A Novel Missense Mutation in the Second Extracellular Domain of GJB2, p.Ser183Phe, Causes a Syndrome of Focal Palmoplantar Keratoderma with Deafness
  per: de Zwart-Storm, Eugene A., et al.
  Publicat: (2008)
• A Homozygous Missense Mutation in TGM5 Abolishes Epidermal Transglutaminase 5 Activity and Causes Acral Peeling Skin Syndrome
  per: Cassidy, Andrew J., et al.
  Publicat: (2005)