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• W2061365536 abstract "Tangier disease is a rare autosomal-recessive disorder caused by mutation in the ATP binding cassette transporter 1 (ABCA1) gene. Typically, Tangier disease manifests with symptoms and signs resulting from the deposition of cholesteryl esters in nonadipose tissues; chiefly, in peripheral nerves leading to neuropathy and in reticulo-endothelial organs, such as liver, spleen, lymph nodes, and tonsils, causing their enlargement and discoloration. An association with early cardiovascular disease can be variable. We describe a patient with a unique phenotype of Tangier disease from a novel splice site mutation in the ABCA1 gene that is associated with a central nervous system presentation resembling multiple sclerosis, and the presence of premature atherosclerosis." @default.
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• W2061365536 date "2013-01-01" @default.
• W2061365536 modified "2023-09-26" @default.
• W2061365536 title "A novel mutation in the ABCA1 gene causing an atypical phenotype of Tangier disease" @default.
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• W2061365536 doi "https://doi.org/10.1016/j.jacl.2012.09.004" @default.
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