Association of a novel homozygous variant in abca1 gene with tangier disease

HIGHLIGHTS

• who: Sofu00eda Barbosa-Gouveia and collaborators from the University of Santiago de Compostela (USC), Coruu00f1a, Spain have published the Article: Association of a Novel Homozygous Variant in ABCA1 Gene with Tangier Disease, in the Journal: (JOURNAL) of 28/02/2022
• what: 4 of 9 Secondary causes of hyperlipidemia were ruled out and the authors focused on assessing for rare hereditary metabolic disorders of lipid metabolism. The authors report the case of a patient referred to the clinic presenting features typical of Tangier disease with a likely pathogenic ABCA1 variant, c.4799A>G, identified for the . . .
  

   

  

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