Advantages and Versatility of Fluorescence-Based Methodology to Characterize the Functionality of LDLR and Class Mutation Assignment

Familial hypercholesterolemia (FH) is a common autosomal codominant disease with a frequency of 1∶500 individuals in its heterozygous form. The genetic basis of FH is most commonly mutations within the LDLR gene. Assessing the pathogenicity of LDLR variants is particularly important to give a patien...

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Detalles Bibliográficos
Autores principales: Etxebarria, Aitor, Benito-Vicente, Asier, Alves, Ana C., Ostolaza, Helena, Bourbon, Mafalda, Martin, Cesar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4227843/
https://www.ncbi.nlm.nih.gov/pubmed/25386756
http://dx.doi.org/10.1371/journal.pone.0112677

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4227843/
https://www.ncbi.nlm.nih.gov/pubmed/25386756
http://dx.doi.org/10.1371/journal.pone.0112677

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