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Characterization of a novel cellular defect in patients with phenotypic homozygous familial hypercholesterolemia

Familial hypercholesterolemia (FH) is characterized by a raised concentration of LDL in plasma that results in a significantly increased risk of premature atherosclerosis. In FH, impaired removal of LDL from the circulation results from inherited mutations in the LDL receptor gene or, more rarely, i...

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Autori principali: Norman, Dennis, Sun, Xi-Ming, Bourbon, Mafalda, Knight, Brian L., Naoumova, Rossitza P., Soutar, Anne K.
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society for Clinical Investigation 1999
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC408536/
https://ncbi.nlm.nih.gov/pubmed/10487776
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