Ontology highlight
ABSTRACT:
SUBMITTER: Yuan B
PROVIDER: S-EPMC1378026 | biostudies-other | 2000 May
REPOSITORIES: biostudies-other
Yuan B B Neuman R R Duan S H SH Weber J L JL Kwok P Y PY Saccone N L NL Wu J S JS Liu K Y KY Schonfeld G G
American journal of human genetics 20000410 5
Familial hypobetalipoproteinemia (FHBL) is an apparently autosomal dominant disorder of lipid metabolism characterized by less than fifth percentile age- and sex-specific levels of apolipoprotein beta (apobeta) and low-density lipoprotein-cholesterol. In a minority of cases, FHBL is due to truncation-producing mutations in the apobeta gene on chromosome 2p23-24. Previously, we reported on a four-generation FHBL kindred in which we had ruled out linkage of the trait to the apobeta gene. To locate ...[more]