Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Cenarro A"'
Functional Characterization and Classification of Frequent Low-Density Lipoprotein Receptor Variants
Autor:
Fernando Civeira, Lourdes Palacios, Helena Ostolaza, César Martín, Marianne Stef, Asier Benito-Vicente, Ana Cenarro, Aitor Etxebarria
Publikováno v:
Human Mutation. 36:129-141
Familial hypercholesterolemia (FH) is an autosomal-dominant disorder mostly caused by mutations in the low-density lipoprotein receptor (LDLR) gene leading to increased risk for premature cardiovascular diseases. According to functional studies, LDLR
Autor:
Ana Cenarro, Ivonne Jericó, Fernando Civeira, Marta Artieda, A. L. García-Otín, Alberto Gañán, Miguel Pocovi
Publikováno v:
Disease Markers, Vol 24, Iss 2, Pp 65-72 (2008)
Disease markers
Scopus-Elsevier
Disease markers
Scopus-Elsevier
Background: Apolipoprotein E (apo E) plays a major role in lipid metabolism, and its genetic variations have been associated with cardiovascular risk. The objective of this study was to investigate the influence of the APOE promoter (−491 A/T, −4
Autor:
Etxebarria, Aitor, Benito‐Vicente, Asier, Palacios, Lourdes, Stef, Marianne, Cenarro, Ana, Civeira, Fernando, Ostolaza, Helena, Martin, Cesar
Publikováno v:
Human Mutation; Jan2015, Vol. 36 Issue 1, p129-141, 13p
Autor:
Pedro Mata, Ana Cenarro, Miguel A. Lasunción, Y. Suarez, G. Reyes, Diego Tejedor, S. Castillo, Fernando Civeira, Rodrigo Alonso, Miguel Pocovi, P. Mozas
Publikováno v:
Human Mutation. 20:477-477
Familial hypercholesterolemia is a genetic disorder caused by mutations in the LDL receptor gene. During a survey of mutations of LDL receptor gene in Spanish FH patients we found two mutations in the same allele: a missense N543H mutation in exon 11
Publikováno v:
Human Mutation. 15:298
Publikováno v:
Scopus-Elsevier
Autor:
Henrik Jensen, Ana Cenarro, Miguel Pocovi, José C. Rodríguez-Rey, José González-Bonillo, Fernando Civeira, E. Casao, Niels Gregersen
Publikováno v:
Human Mutation. 11:413-413
We used the single strand conformation polymorphism (SSCP) method to investigate 13 apparently unrelated Spanish patients with familial hypercholesterolemia (FH) for mutations in the promoter region and the 18 exons and their flanking intron sequence
Autor:
Ana Cenarro, Henrik K. Jensen, Elena Casao, Fernando Civeira, José González‐Bonillo, José C. Rodríguez‐Rey, Niels Gregersen, Miguel Pocoví
Publikováno v:
Human Mutation. 11:413-413
Autor:
Artieda, Marta, Gañán, Alberto, Cenarro, Ana, García-Otín, Ángel Luis, Jericó, Ivonne, Civeira, Fernando, Pocoví, Miguel
Publikováno v:
Disease Markers; 2008, Vol. 24 Issue 2, p65-72, 8p, 3 Charts
Publikováno v:
Human Mutation; May2000, Vol. 15 Issue 5, p483-484, 2p