… 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 …

… same mutation as in the prior kindred (−2 codon nonsense … patients with homozygous
Tangier disease develop premature … heterozygous Tangier disease and marked HDL deficiency …

… The Middle East region is characterized by low levels of high-density lipoprotein cholesterol
(… , is caused by mutations in ABCA1 encoding the ATP-binding cassette subfamily A member …

… 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 an autosomal recessive disorder characterized by severe reduction in
high-density lipoprotein cholesterol and … We describe a family with c.5094C > A p.Tyr1698* …

… or absent high-density lipoprotein (HDL), is a rare hereditary … a patient with Tangier disease
due to a novel mutation in the … , TG-rich, and cholesterol- and PL-poor lipoproteins (Lp10) in …

… 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, …