Functional characterization of abca4 genetic variants related to stargardt disease

HIGHLIGHTS

• who: Bo Min Kim from the DepartmentWomans University have published the research: Functional characterization of ABCA4 genetic variants related to Stargardt disease, in the Journal: Scientific Reports Scientific Reports
• what: The authors constructed vectors containing a wild-type ABCA4 gene and its variants and investigated ABCA4 expression levels of the variants on the plasma_membrane using cell surface biotinylation assays and immunofluorescence. This study examined the effect of p.Arg290Gln, p.Asp645Asn, p.Thr1117Ala, p.Cys1140Trp, and p.Asn1588Tyr missense variants on ABCA4 expression.
• how: Using the rs number of each variant the authors . . .
  

   

  

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