New mutations in the SLC7A7 gene of two chinese sisters with lysinuric protein intolerance

Lignende værker

• Structure of the SLC7A7 Gene and Mutational Analysis of Patients Affected by Lysinuric Protein Intolerance
  af: Sperandeo, Maria Pia, et al.
  Udgivet: (2000)
• Inducible Slc7a7 Knockout Mouse Model Recapitulates Lysinuric Protein Intolerance Disease
  af: Bodoy, Susanna, et al.
  Udgivet: (2019)
• Lysinuric protein intolerance in a family of Mexican ancestry with a novel SLC7A7 gene deletion. Case report and review of the literature
  af: Carpentieri, David, et al.
  Udgivet: (2015)
• Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat
  af: Font-Llitjós, Mariona, et al.
  Udgivet: (2009)
• A global Slc7a7 knockout mouse model demonstrates characteristic phenotypes of human lysinuric protein intolerance
  af: Stroup, Bridget M, et al.
  Udgivet: (2020)