A new apolipoprotein B truncation (apo B-43.7) in familial hypobetalipoproteinemia: genetic and metabolic studies.

doi:10.1016/s0026-0495(96)90251-6

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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 co...

Topics

Adult
Apolipoprotein B-100
Apolipoproteins B
Child
Female
Humans
Hypobetalipoproteinemias
Lipoproteins
Male
Middle Aged
Mutation
Pedigree

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