Familial hypobetalipoproteinemia: genetics and metabolism
Familial hypobetalipoproteinemia: genetics and metabolism
About this item
Full title
Author / Creator
Schonfeld, G , Lin, X and Yue, P
Publisher
Switzerland: Springer Nature B.V
Journal title
Language
English
Formats
Publication information
Publisher
Switzerland: Springer Nature B.V
Subjects
More information
Scope and Contents
Contents
Familial hypobetalipoproteinemia (FHBL), an autosomal dominant disorder, is defined as <5th percentile LDL-cholesterol or apolipoprotein (apo) B in the plasma. FHBL subjects are generally heterozygous and asymptomatic. Three genetic forms exist: (i) premature stop codon specifying mutations of APOB; (ii) FHBL linked to a susceptibility locus on the...
Alternative Titles
Full title
Familial hypobetalipoproteinemia: genetics and metabolism
Authors, Artists and Contributors
Author / Creator
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Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_11139194
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_11139194
Other Identifiers
ISSN
1420-682X
E-ISSN
1420-9071
DOI
10.1007/s00018-005-4473-0
