NIPAL4/Ichthyin Is Expressed in the Granular Layer of Human Epidermis and Mutated in Two Pakistani Families with Autosomal Recessive Ichthyosis

Gelijkaardige items

• Autosomal Recessive Congenital Ichthyosis in American Bulldogs Is Associated With NIPAL4 (ICHTHYIN) Deficiency
  door: Mauldin, E. A., et al.
  Gepubliceerd in: (2014)
• Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis
  door: Dahlqvist, J, et al.
  Gepubliceerd in: (2007)
• Co-Occurrence of Autosomal Recessive Lamellar Ichthyosis and X-Linked Recessive Ichthyosis in a Consanguineous Pakistani Family
  door: Karim, Noreen, et al.
  Gepubliceerd in: (2019)
• Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome
  door: Cabral, Rita M., et al.
  Gepubliceerd in: (2012)
• A Defect in NIPAL4 Is Associated with Autosomal Recessive Congenital Ichthyosis in American Bulldogs
  door: Casal, Margret L., et al.
  Gepubliceerd in: (2017)