Exome Sequencing and Directed Clinical Phenotyping Diagnose Cholesterol Ester Storage Disease Presenting as Autosomal Recessive Hypercholesterolemia.

Stitziel, Nathan O (author)

Fouchier, Sigrid W (author)

Sjouke, Barbara (author)

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Peloso, Gina M (author)

Moscoso, Alessa M (author)

Auer, Paul L (author)

Goel, Anuj (author)

Gigante, Bruna (author)

Karolinska Institutet

Barnes, Timothy A (author)

Melander, Olle (author)

Lund University,Lunds universitet,Kardiovaskulär forskning - hypertoni,Forskargrupper vid Lunds universitet,Cardiovascular Research - Hypertension,Lund University Research Groups

Orho-Melander, Marju (author)

Lund University,Lunds universitet,Diabetes - kardiovaskulär sjukdom,Forskargrupper vid Lunds universitet,Diabetes - Cardiovascular Disease,Lund University Research Groups

Duga, Stefano (author)

Sivapalaratnam, Suthesh (author)

Nikpay, Majid (author)

Martinelli, Nicola (author)

Girelli, Domenico (author)

Jackson, Rebecca D (author)

Kooperberg, Charles (author)

Lange, Leslie A (author)

Ardissino, Diego (author)

McPherson, Ruth (author)

Farrall, Martin (author)

Watkins, Hugh (author)

Reilly, Muredach P (author)

Rader, Daniel J (author)

de Faire, Ulf (author)

Karolinska Institutet

Schunkert, Heribert (author)

Erdmann, Jeanette (author)

Samani, Nilesh J (author)

Charnas, Lawrence (author)

Altshuler, David (author)

Gabriel, Stacey (author)

Kastelein, John J P (author)

Defesche, Joep C (author)

Nederveen, Aart J (author)

Kathiresan, Sekar (author)

Hovingh, G Kees (author)

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 (creator_code:org_t)

2013

2013

English.

In: Arteriosclerosis, Thrombosis and Vascular Biology. - 1524-4636. ; 33:12, s. 2909-2914

Related links:

http://www.ncbi.nlm....

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http://dx.doi.org/10...

https://lup.lub.lu.s...

https://doi.org/10.1...

http://kipublication...

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• Journal article (peer-reviewed)