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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Publié dans:Int J Mol Sci
Auteurs principaux: Musialik, Joanna, Boguszewska-Chachulska, Anna, Pojda-Wilczek, Dorota, Gorzkowska, Agnieszka, Szymańczak, Robert, Kania, Magdalena, Kujawa-Szewieczek, Agata, Wojcieszyn, Małgorzata, Hartleb, Marek, Więcek, Andrzej
Format: Artigo
Langue:Inglês
Publié: MDPI 2020
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7073066/
https://ncbi.nlm.nih.gov/pubmed/32093271
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms21041439
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