Novel transglutaminase-1 mutations and genotype–phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA

Antzeko izenburuak

• Transglutaminase-1 (TGM1) Gene Mutations in Autosomal Recessive Congenital Ichthyosis: Summary of Mutations (Including 23 Novel) and Modeling of TGase-1
  nork: Herman, Matthew L., et al.
  Argitaratua: (2009)
• Mutations in Transglutaminase 1 Gene in Autosomal Recessive Congenital Ichthyosis in Egyptian Families
  nork: Shawky, R. M., et al.
  Argitaratua: (2004)
• A Novel Mutation in the Transglutaminase-1 Gene in an Autosomal Recessive Congenital Ichthyosis Patient
  nork: Vaigundan, D., et al.
  Argitaratua: (2014)
• Comparing histopathology from patients with X-linked recessive ichthyosis and autosomal recessive congenital ichthyosis with transglutaminase 1 mutation: a report from the National Registry for Ichthyosis and Related Skin Disorders
  nork: Yang, Catherine S., et al.
  Argitaratua: (2016)
• Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population.
  nork: Laiho, E, et al.
  Argitaratua: (1997)