Identification and characterization of novel loss of function mutations in ATP-binding cassette transporter A1 in patients with low plasma high-density lipoprotein …
C Candini, AW Schimmel, J Peter, AE Bochem… - Atherosclerosis, 2010 - Elsevier
OBJECTIVES: The current literature provides little information on the frequency of mutations
in the ATP-binding cassette transporter A1 (ABCA1) in patients with low high-density
lipoprotein cholesterol (HDL) levels that are referred to the clinic. In 78 patients with low
plasma levels of HDL cholesterol that were referred to our clinic, we routinely screened for
ABCA1 gene mutations and studied the functionality of newly identified ABCA1 missense
mutations. METHODS: The coding regions and exon–intron boundaries of the ABCA1 gene …
in the ATP-binding cassette transporter A1 (ABCA1) in patients with low high-density
lipoprotein cholesterol (HDL) levels that are referred to the clinic. In 78 patients with low
plasma levels of HDL cholesterol that were referred to our clinic, we routinely screened for
ABCA1 gene mutations and studied the functionality of newly identified ABCA1 missense
mutations. METHODS: The coding regions and exon–intron boundaries of the ABCA1 gene …