Aitor
Etxebarria Gallego
Publicacións nas que colabora con Aitor Etxebarria Gallego (11)
2017
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Analysis of LDLR variants from homozygous FH patients carrying multiple mutations in the LDLR gene
Atherosclerosis, Vol. 263, pp. 163-170
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Identification and in vitro characterization of two new PCSK9 Gain of Function variants found in patients with Familial Hypercholesterolemia
Scientific Reports, Vol. 7, Núm. 1
2016
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Structural changes induced by acidic pH in human apolipoprotein B-100
Scientific Reports, Vol. 6
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The p.Leu167del mutation in APOE gene causes autosomal dominant hypercholesterolemia by down-regulation of LDL receptor expression in hepatocytes
Journal of Clinical Endocrinology and Metabolism, Vol. 101, Núm. 5, pp. 2113-2121
2015
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Activity-associated effect of LDL receptor missense variants located in the cysteine-rich repeats
Atherosclerosis, Vol. 238, Núm. 2, pp. 304-312
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Characterization of the First PCSK9 Gain of Function Homozygote
Journal of the American College of Cardiology
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Functional characterization and classification of frequent low-density lipoprotein receptor variants
Human Mutation, Vol. 36, Núm. 1, pp. 129-141
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Hiperkolesterolemia familiarra: LDLR, APOB eta PCSK9-en mutazioen balioztapen funtzionala diagnostiko zehatz baterako.
I. IkergazteNazioarteko ikerketa euskaraz. Kongresuko artikulu-bilduma: 2015eko maiatzaren 13, 14 eta 15a. Durango, Euskal Herria
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Structural analysis of APOB variants, p.(Arg3527Gln), p.(Arg1164Thr) and p.(Gln4494del), causing Familial Hypercholesterolaemia provides novel insights into variant pathogenicity
Scientific Reports, Vol. 5
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The importance of an integrated analysis of clinical, molecular, and functional data for the genetic diagnosis of familial hypercholesterolemia
Genetics in Medicine, Vol. 17, Núm. 12, pp. 980-988