Genetic analysis of autosomal recessive osteopetrosis in Chuvashiya: the unique splice site mutation in TCIRG1 gene spread by the founder effect

Lignende værker

• Generation of an immunodeficient mouse model of tcirg1-deficient autosomal recessive osteopetrosis
  af: Palagano, Eleonora, et al.
  Udgivet: (2020)
• Novel mutations of TCIRG1 cause a malignant and mild phenotype of autosomal recessive osteopetrosis (ARO) in four Chinese families
  af: Zhang, Xiao-ya, et al.
  Udgivet: (2017)
• Autosomal recessive osteopetrosis: mechanisms and treatments
  af: Penna, Sara, et al.
  Udgivet: (2021)
• Autosomal recessive osteopetrosis: diagnosis, management, and outcome
  af: Wilson, C, et al.
  Udgivet: (2000)
• Generation of 3 clones of induced pluripotent stem cells (iPSCs) from a patient affected by Autosomal Recessive Osteopetrosis due to mutations in TCIRG1 gene.
  af: Gaetana Lanzi, et al.
  Udgivet: (2020-01-01)