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4,275 results
  • Novel REEP6 gene mutation associated with autosomal recessive retinitis pigmentosa. [Journal Article]
    Doc Ophthalmol 2019Lin Y, Xu CL, … Tsang SH
  • CONCLUSIONS: This report is not only the first description of a Cameroonian patient with arRP associated with a REEP6 mutation, but also this particular genetic alteration. Substitution of p.Glu99Lys in REEP6 likely disrupts the interactions between REEP6 and the ER membrane. NIR-AF imaging may be particularly useful for assessing functional photoreceptor cells and show an "avocado" pattern of hyperautofluorescence in patients with the REEP6 mutation.
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