Characterization of xpr1/slc53a1 variants located outside of the spx domain in patients with primary familial brain calcification

HIGHLIGHTS

• who: Uriel Lamp#x000F3 et al. from the Institut de Génétique Moléculaire de Montpellier, University of Montpellier, CNRS, Montpellier, France Normandie have published the research work: Characterization of XPR1/SLC53A1 variants located outside of the SPX domain in patients with primary familial brain calcification, in the Journal: Scientific Reports Scientific Reports of 30/Nov/2018
• what: The authors characterize three XPR1 variants outside of SPX in three PFBC patients with an apparently sporadic presentation: c.1375C > T p.(R459C) c.1855A > G p.(N619D) and c.1886T > G p.(I629S) with the . . .
  

   

  

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