Disease Presenting as Autosomal Recessive Hypercholesterolemia Exome Sequencing and Directed Clinical Phenotyping Diagnose Cholesterol Ester Storage
Year: 2013
Type: article
Authors: G. Kees Hovingh, Stacey Gabriel, Joep C. Defesche, Aart J. Nederveen, Heribert Schunkert, Jeanette Erdmann, Nilesh J. Samani, Lawrence Charnas, Martin Farrall, Hugh Watkins, Muredach P. Reilly, Daniel J. Rader, Rebecca D. Jackson, Charles Kooperberg, Leslie A. Lange, Diego Ardissino, Stefano Duga, Majid Nikpay, Nicola Martinelli, Paul L. Auer, Anuj Goel, Bruna Gigante, Timothy Barnes, Olle Melander, O. Stitziel, Sigrid W. Fouchier, Barbara Sjouke, Gina M. Peloso, Alessa M. Moscoso
Language: English
Subfield: Physiology
Field: Medicine
Domain: Health Sciences
Open Access status: closed
OpenAlex ID: W2186181223
