Increased Intestinal Cholesterol Absorption in Autosomal Dominant Hypercholesterolemia and No Mutations in the Low-Density Lipoprotein Receptor or Apolipoprotein B Genes | Zendy

A.L. García-Otín | Zendy; Montserrat Cofán | Zendy; Mireia Junyent | Zendy; D. Recalde | Zendy; Ana Cenarro | Zendy; Miguel Pocovı́ | Zendy; Emilio Ros | Zendy; Fernando Civeira | Zendy

Open Access

Increased Intestinal Cholesterol Absorption in Autosomal Dominant Hypercholesterolemia and No Mutations in the Low-Density Lipoprotein Receptor or Apolipoprotein B Genes

Author(s) -

A.L. García-Otín,

Montserrat Cofán,

Mireia Junyent,

D. Recalde,

Ana Cenarro,

Miguel Pocovı́,

Emilio Ros,

Fernando Civeira

Publication year - 2007

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.2006-2567

Subject(s) - familial hypercholesterolemia , endocrinology , medicine , apolipoprotein b , hyperlipidemia , ldl receptor , cholesterol , lipoprotein , biology , diabetes mellitus

Autosomal dominant hypercholesterolemia (ADH) is frequently caused by functional mutations in the low-density lipoprotein receptor (LDLR) or apolipoprotein B-100 (APOB) genes, but approximately 40% of ADH subjects disclose no such molecular defects, possibly pointing to alternative genetic mechanisms.

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