As Little as Needed: The Extraordinary Case of a Mild Recessive Osteopetrosis Owing to a Novel Splicing Hypomorphic Mutation in the TCIRG1 Gene†

Lignende værker

• Prognostic potential of precise molecular diagnosis of Autosomal Recessive Osteopetrosis with respect to the outcome of bone marrow transplantation
  af: Villa, Anna, et al.
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• Generation of an immunodeficient mouse model of tcirg1-deficient autosomal recessive osteopetrosis
  af: Palagano, Eleonora, et al.
  Udgivet: (2020)
• 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)
• Genetic analysis of autosomal recessive osteopetrosis in Chuvashiya: the unique splice site mutation in TCIRG1 gene spread by the founder effect
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  Udgivet: (2009)
• Autosomal recessive osteopetrosis: mechanisms and treatments
  af: Penna, Sara, et al.
  Udgivet: (2021)