Crystals and Fatty Acid Abnormalities Are Not Present in Circulating Cells From Choroideremia Patients.

doi:10.1167/iovs.18-25112

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Crystals and Fatty Acid Abnormalities Are Not Present in Circulating Cells From Choroideremia Patients.

Investigative ophthalmology & visual science - 4 Sept 2018

Radziwon Alina, Cho Woo Jung, Szkotak Artur, Suh Miyoung, MacDonald Ian M

Abstract excerpt

Purpose: To confirm whether choroideremia (CHM) is a systemic disease characterized by blood lipid abnormalities and crystals found in, or associated with, circulating peripheral blood cells of patients. Methods: Peripheral blood samples obtained from three subjects with confirmed mutations in the CHM gene and three age-matched normal controls were processed for transmission electron microscopy (TEM) and scanning...

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