… mutations in a patient with Tangier disease, who presented an uncommon clinical history,
and in his family … of a new patient with familial high-density lipoprotein deficiency syndrome …

… Tangier disease is characterized by severe deficiency or absence of high-density lipoprotein
(HDL… The major clinical signs of Tangier disease include hyperplastic yellow-orange tonsils, …

… reduced levels of plasma high-density lipoprotein cholesterol (HDL-… The ATP-binding cassette
(ABC) transporter superfamily is a … The protein modelling of wild-type and mutated ABCA1 …

… Serum HDL levels are reduced to zero in homozygous mutants and to normal or mildly
below normal levels in heterozygous mutants. Typical symptoms of Tangier disease include …

… Tangier disease is a genetic disorder characterized by an absence or extremely low level
of high-density lipoprotein (HDL)-cholesterol (HDL-C). It is caused by a dysfunctional mutation …

… Tangier disease is characterized by severe deficiency or absence of high-density lipoprotein
(HDL… The major clinical signs of Tangier disease include hyperplastic yellow-orange tonsils, …

… and phospholipid efflux to apolipoprotein AI and high density lipoprotein (HDL) biogenesis.
… 6.5 ABC Transporters in HDL Metabolism and ACD As the mutated gene in Tangier Disease, …

… ABC (ATP-binding-cassette) gene family with several subfamilies that play various roles in
lipid and ion transportation. Mutations in specific ABC … high density lipoprotein cholesterol …

… mutations in ABCA1 cause Tangier disease. The phenotype of their markedly reduced or loss
of blood high-density lipoprotein (HDL) cholesterol… A1 (ABCA1)-deficient mice, proved that …

… Tangier Disease (TD) is a rare autosomal recessive disease characterized by a severe
deficiency in High-Density Lipoprotein Cholesterol (… an impaired Reverse Cholesterol Transport (…