A Rare Mutation in The APOB Gene Associated with Neurological Manifestations in Familial Hypobetalipoproteinemia

Clinical phenotypes of familial hypobetalipoproteinemia (FHBL) are related to a number of defective apolipoprotein B (APOB) alleles. Fatty liver disease is a typical manifestation, but serious neurological symptoms can appear. In this study, genetic analysis of the APOB gene and ophthalmological dia...

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Detalles Bibliográficos
Autores principales: Musialik, Joanna, Boguszewska-Chachulska, Anna, Pojda-Wilczek, Dorota, Gorzkowska, Agnieszka, Szymańczak, Robert, Kania, Magdalena, Kujawa-Szewieczek, Agata, Wojcieszyn, Małgorzata, Hartleb, Marek, Więcek, Andrzej
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7073066/
https://www.ncbi.nlm.nih.gov/pubmed/32093271
http://dx.doi.org/10.3390/ijms21041439

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7073066/
https://www.ncbi.nlm.nih.gov/pubmed/32093271
http://dx.doi.org/10.3390/ijms21041439

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