Article
A new apolipoprotein B truncation (apo B-43.7) in familial hypobetalipoproteinemia: genetic and metabolic studies.
Metabolism: clinical and experimental - 1 Oct 1996
Srivastava N, Noto D, Averna M, Pulai J, Srivastava R A, Cole T G, Latour M A, Patterson B W, Schonfeld G
Abstract excerpt
We describe a new truncation of apolipoprotein (apo) B in a white kindred with familial hypobetalipoproteinemia (FHBL). Apo B-43.7, found in a daughter and her father, was due to a C --> T change in base position 6162 of the apo B gene converting the arginine (residue 1986) codon CGA to a stop codon TGA. Both subjects were heterozygotes, and both apo B-43.7- and apo B-100-containing particles were present in...
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