Browsing PubMed İndeksli Yayınlar Koleksiyonu by Subject "ABCA1"
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Clinical, Electrodiagnostic, and Genetic Features of Tangier Disease in an Adolescent Girl with Presentation of Peripheral Neuropathy
(GEORG THIEME VERLAG KG, 2015)Tangier disease (TD) is a rare, autosomal recessive inherited disorder caused by a mutation in the adenosine triphosphate-binding cassette transporter 1 (ABCA1) gene, which results in a decrease in plasma high-density ...