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Functional characterization of splicing and ligand-binding domain variants in the LDL receptor. [electronic resource] by
- Etxebarria, Aitor
- Palacios, Lourdes
- Stef, Marianne
- Tejedor, Diego
- Uribe, Kepa B
- Oleaga, Amalia
- Irigoyen, Luis
- Torres, Beatriz
- Ostolaza, Helena
- Martin, Cesar
Producer: 20120423
In:
Human mutation vol. 33
Availability: No items available.
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Characterization of the first PCSK9 gain of function homozygote. [electronic resource] by
- Alves, Ana Catarina
- Etxebarria, Aitor
- Medeiros, Ana Margarida
- Benito-Vicente, Asier
- Thedrez, Aurélie
- Passard, Maxime
- Croyal, Mikaël
- Martin, Cesar
- Lambert, Gilles
- Bourbon, Mafalda
Producer: 20160216
In:
Journal of the American College of Cardiology vol. 66
Availability: No items available.
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Identification and in vitro characterization of two new PCSK9 Gain of Function variants found in patients with Familial Hypercholesterolemia. [electronic resource] by
- Di Taranto, Maria Donata
- Benito-Vicente, Asier
- Giacobbe, Carola
- Uribe, Kepa Belloso
- Rubba, Paolo
- Etxebarria, Aitor
- Guardamagna, Ornella
- Gentile, Marco
- Martín, Cesar
- Fortunato, Giuliana
Producer: 20190703
In:
Scientific reports vol. 7
Availability: No items available.
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The p.Leu167del Mutation in APOE Gene Causes Autosomal Dominant Hypercholesterolemia by Down-regulation of LDL Receptor Expression in Hepatocytes. [electronic resource] by
- Cenarro, Ana
- Etxebarria, Aitor
- de Castro-Orós, Isabel
- Stef, Marianne
- Bea, Ana M
- Palacios, Lourdes
- Mateo-Gallego, Rocío
- Benito-Vicente, Asier
- Ostolaza, Helena
- Tejedor, Teresa
- Martín, César
- Civeira, Fernando
Producer: 20170613
In:
The Journal of clinical endocrinology and metabolism vol. 101
Availability: No items available.
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Analysis of LDLR variants from homozygous FH patients carrying multiple mutations in the LDLR gene. [electronic resource] by
- Jiang, Long
- Benito-Vicente, Asier
- Tang, Ling
- Etxebarria, Aitor
- Cui, Wei
- Uribe, Kepa B
- Pan, Xiao-Dong
- Ostolaza, Helena
- Yang, Shi-Wei
- Zhou, Yu-Jie
- Martin, Cesar
- Wang, Lu-Ya
Producer: 20180507
In:
Atherosclerosis vol. 263
Availability: No items available.
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