Variable expressivity and co‐occurrence of LDLR and LDLRAP1 mutations in familial hypercholesterolemia: failure of the dominant and recessive dichotomy

BACKGROUND: The familial inherited genetic disorder of lipoprotein metabolism affects more than 10 million individuals around the world. Lebanon is one of the several endemic areas for familial hypercholesterolemia (FH) with a founder mutation in the low‐density lipoprotein cholesterol receptor (LDL...

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Vydáno v:Mol Genet Genomic Med
Hlavní autoři: Fahed, Akl C., Khalaf, Ruby, Salloum, Rony, Andary, Rabih R., Safa, Raya, El‐Rassy, Inaam, Moubarak, Elie, Azar, Sami T., Bitar, Fadi F., Nemer, Georges
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2016
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Original Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4867562/
https://ncbi.nlm.nih.gov/pubmed/27247956
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.203
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