Familial hypobetalipoproteinemia: a review

Familial hypobetalipoproteinemia: a review

We review the genetics and pathophysiology of familial hypobetalipoproteinemia (FHBL), a mildly symptomatic genetically heterogeneous autosomal trait. The minority of human FHBL is caused by truncation-specifying mutations of the APOB gene on chromosome 2. In seven families, linkage to chromosome 2...

Full description

Bibliographic Details
Main Author: Gustav Schonfeld
Format: Article
Language:English
Published: Elsevier 2003-05-01
Series:Journal of Lipid Research
Subjects:
apolipoprotein B
microsomal triglyceride transfer protein
abetalipoproteinemia
low cholesterol
truncated apolipoprotein B
hepatosteatosis
Online Access:http://www.sciencedirect.com/science/article/pii/S0022227520311329

Internet

http://www.sciencedirect.com/science/article/pii/S0022227520311329

Similar Items