A Rare Mutation in The <i>APOB</i> Gene Associated with Neurological Manifestations in Familial Hypobetalipoproteinemia

A Rare Mutation in The <i>APOB</i> Gene Associated with Neurological Manifestations in Familial Hypobetalipoproteinemia

Clinical phenotypes of familial hypobetalipoproteinemia (FHBL) are related to a number of defective apolipoprotein B (<i>APOB</i>) alleles. Fatty liver disease is a typical manifestation, but serious neurological symptoms can appear. In this study, genetic analysis of the <i>APOB&l...

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Bibliographic Details
Main Authors: Joanna Musialik, Anna Boguszewska-Chachulska, Dorota Pojda-Wilczek, Agnieszka Gorzkowska, Robert Szymańczak, Magdalena Kania, Agata Kujawa-Szewieczek, Małgorzata Wojcieszyn, Marek Hartleb, Andrzej Więcek
Format: Article
Language:English
Published: MDPI AG 2020-02-01
Series:International Journal of Molecular Sciences
Subjects:
familial hypobetalipoproteinemia
nonalcoholic fatty liver disease
liver steatosis
<i>apob</i> mutation
Online Access:https://www.mdpi.com/1422-0067/21/4/1439

Internet

https://www.mdpi.com/1422-0067/21/4/1439

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