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Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk

AIMS: To determine the relative frequency of mutations in three different genes (low‐density lipoprotein receptor (LDLR), APOB, PCSK9), and to examine their effect in development of coronary heart disease (CHD) in patients with clinically defined definite familial hypercholesterolaemia in UK. PATIEN...

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Autores principales: Humphries, S E, Whittall, R A, Hubbart, C S, Maplebeck, S, Cooper, J A, Soutar, A K, Naoumova, R, Thompson, G R, Seed, M, Durrington, P N, Miller, J P, Betteridge, D J B, Neil, H A W
Formato: Artigo
Lenguaje:Inglês
Publicado: BMJ Group 2006
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2563208/
https://ncbi.nlm.nih.gov/pubmed/17142622
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2006.038356
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