A case of tangier disease with a novel mutation in the c‐terminal region of ATP‐binding cassette transporter A1

Tangier disease (TD), a rare disorder characterized by extremely low levels of high density lipoprotein cholesterol (HDL‐C), is caused by mutations in the ATP‐binding cassette transporter A1 (ABCA1) gene. Here, we describe a new patient with TD. The 42‐year‐old proband had obvious juvenile cataracts...

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