The history of Autosomal Recessive Hypercholesterolemia (ARH). From clinical observations to gene identification-Reference-Cited by-同舟云学术

The history of Autosomal Recessive Hypercholesterolemia (ARH). From clinical observations to gene identification

Published:2015-01 Issue:1 Volume:555 Page:23-32
ISSN:0378-1119
Container-title:Gene
language:en
Short-container-title:Gene

Author:

Fellin Renato,Arca Marcello,Zuliani Giovanni,Calandra Sebastiano,Bertolini Stefano^ORCID

Publisher

Elsevier BV

Subject

Genetics,General Medicine

Reference61 articles.

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2. Autosomal recessive hypercholesterolemia in Sardinia, Italy, and mutations in ARH: a clinical and molecular genetic analysis;Arca;Lancet,2002

3. Autosomal recessive hypercholesterolemia in a Sicilian kindred harboring the 432insA mutation of the ARH gene;Barbagallo;Atherosclerosis,2003

4. Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy;Bertolini;Atherosclerosis,2013

5. Regulation of 3-hydroxy-3-methylglutaryl coenzyme A reductase activity in cultured human fibroblasts: comparison of cells from a normal subject and from a patient with homozygous familial hypercholesterolemia;Brown;J. Biol. Chem.,1974

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