Article
Exclusion of linkage between the human apolipoprotein B gene and abetalipoproteinemia.
American journal of human genetics - 1 Jun 1990
Huang L S, Jänne P A, de Graaf J, Cooper M, Deckelbaum R J, Kayden H, Breslow J L, Decklebaum R J
Abstract excerpt
Abetalipoproteinemia (ABLP) is a rare autosomal recessive disease characterized by a lack of plasma apolipoprotein B (apo B). In this report, the hypothesis that ABLP is due to rare mutations in the apo B gene was tested. A total of eight ABLP families were studied. Apo B gene RFLPs were used to...
Topics
- Abetalipoproteinemia
- Alleles
- Apolipoproteins B
- Base Sequence
- Consanguinity
- Female
- Genetic Linkage
- Haplotypes
- Homozygote
- Humans
- Lod Score
- Male
- Molecular Sequence Data
- Pedigree
- Restriction Mapping