Single heterozygote splice mutation in the ABCA1 gene is associated with diffuse atherosclerotic disease in a low high-density lipoprotein syndrome | Zendy

Dimitrios Dimitroulis | Zendy; Malte Kelm | Zendy; Marc Vorpahl | Zendy

Open Access

Single heterozygote splice mutation in the ABCA1 gene is associated with diffuse atherosclerotic disease in a low high-density lipoprotein syndrome

Author(s) -

Dimitrios Dimitroulis,

Malte Kelm,

Marc Vorpahl

Publication year - 2012

Publication title -

european heart journal

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 4.336

H-Index - 293

eISSN - 1522-9645

pISSN - 0195-668X

DOI - 10.1093/eurheartj/ehs085

Subject(s) - medicine , cardiology , body mass index , heterozygote advantage , familial hypercholesterolemia , cholesterol , gene , genotype , genetics , biology

A 50-year-old woman was referred with a 6-month history of dyspnoea. She presented with obesity (body mass index: 40.9 kg/m2), blood pressures of 140/80 mmHg on the right arm and 100/70 mmHg on the left, a left subclavian bruit, and corneal clouding covering the pupil ( Panel A ). Laboratory tests were notable for haemoglobin of 9.9 g/dL (normal: 12–16), stomatocytes ( Panel B ) and …

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