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Use of Homozygosity Mapping to Identify a Region on Chromosome 1 Bearing a Defective Gene That Causes Autosomal Recessive Homozygous Hypercholesterolemia in Two Unrelated Families

Familial hypercholesterolemia (FH) is a common inherited disorder of metabolism characterized clinically by high levels of low-density lipoprotein (LDL) in plasma owing to reduced catabolism. This leads to accelerated atherosclerosis and thus to an increased risk of coronary heart disease. FH is usu...

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Библиографические подробности
Главные авторы: Eden, Emily R., Naoumova, Rossitza P., Burden, Jemima J., McCarthy, Mark I., Soutar, Anne K.
Формат: Artigo
Язык:Inglês
Опубликовано: The American Society of Human Genetics 2001
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Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC1274478/
https://ncbi.nlm.nih.gov/pubmed/11179013
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