Donor splice mutation generates a lipid-associated apolipoprotein B-27.6 in a patient with homozygous hypobetalipoproteinemia.

Author:

Talmud P J,Krul E S,Pessah M,Gay G,Schonfeld G,Humphries S E,Infante R

Publisher

Elsevier BV

Subject

Cell Biology,Endocrinology,Biochemistry

Reference38 articles.

1. Familial hypobetalipoproteinemia;Linton;J. Lipid Res.,1993

2. Truncated variants of apolipoprotein B cause hypobetalipoproteinaemia;Collins;Nucleic Acids. Res.,1988

3. Hypobetalipoproteinemia due to an apolipoprotein B gene exon 21 deletion derived by Alu-Alu-recombination;Huang;J. Biol. Chem.,1989

4. ApoB gene nonsense and splicing mutations in a compound heterozygote for familial hypobetalipoproteinemia;Huang;J. Lipid Res.,1991

5. Familial hypobetalipoproteinemia caused by a mutation in the apolipoproteinemia B gene that results in a truncated species of apolipoprotein B (B-31);Young;A unique mutation that helps to define the portion of the apolipoprotein B molecule required for the formation of buoyant, triglyceride-rich lipoproteins. J. Clin. Invest.,1990

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