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Mutations in theANGPTL3Gene and Familial Combined Hypolipidemia: A Clinical and Biochemical Characterization
Author(s) -
Ilenia Minicocci,
Anna Montali,
Marius R. Robciuc,
Fabiana Quagliarini,
Vincenzo Censi,
Giancarlo Labbadia,
Claudia Gabiati,
Giovanni Pigna,
Maria Laura Sepe,
Fabio Pannozzo,
Dieter Lütjohann,
Sergio Fazio,
Matti Jauhiainen,
Christian Ehnholm,
Marcello Arca
Publication year - 2012
Publication title -
the journal of clinical endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.206
H-Index - 353
eISSN - 1945-7197
pISSN - 0021-972X
DOI - 10.1210/jc.2012-1298
Subject(s) - apolipoprotein b , medicine , familial hypercholesterolemia , proband , endocrinology , heterozygote advantage , cholesterol , allele , genetics , biology , mutation , gene
Familial combined hypolipidemia causes a global reduction of plasma lipoproteins. Its clinical correlates and metabolic implications have not been well defined.

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