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Evaluation of clinical diagnosis criteria of familial ligand defective apoB 100 and lipoprotein phenotype comparison between LDL receptor gene mutations affecting ligand-binding domain and the R3500Q mutation of the apoB gene in patients from a South European population.
Ejarque I, Real JT, Martinez-Hervas S, Chaves FJ, Blesa S, Garcia-Garcia AB, Millan E, Ascaso JF, Carmena R. Ejarque I, et al. Among authors: blesa s. Transl Res. 2008 Mar;151(3):162-7. doi: 10.1016/j.trsl.2007.12.001. Epub 2008 Jan 7. Transl Res. 2008. PMID: 18279815
Reduced penetrance of autosomal dominant hypercholesterolemia in a high percentage of families: importance of genetic testing in the entire family.
Garcia-Garcia AB, Ivorra C, Martinez-Hervas S, Blesa S, Fuentes MJ, Puig O, Martín-de-Llano JJ, Carmena R, Real JT, Chaves FJ. Garcia-Garcia AB, et al. Among authors: blesa s. Atherosclerosis. 2011 Oct;218(2):423-30. doi: 10.1016/j.atherosclerosis.2011.07.106. Epub 2011 Jul 30. Atherosclerosis. 2011. PMID: 21868016
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