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Heterozygosity for apolipoprotein E-4Philadelphia(Glu13----Lys, Arg145----Cys) is associated with incomplete dominance of type III hyperlipoproteinemia.
Lohse P, Rader DJ, Brewer HB Jr. Lohse P, et al. J Biol Chem. 1992 Jul 5;267(19):13642-6. J Biol Chem. 1992. PMID: 1352296 Free article.
These mutations result in two restriction fragment length polymorphisms for the enzymes AvaI and BbvI, a smaller apparent molecular weight of apoE-4Philadelphia on sodium dodecyl polyacrylamide gels, and severe type III hyperlipoproteinemia (HLP) in a 24-year-old homozygous femal …
These mutations result in two restriction fragment length polymorphisms for the enzymes AvaI and BbvI, a smaller apparent molecular weight o …
[Lysosomal acid lipase deficiency. Overview of Czech patients].
Elleder M, Poupĕtová H, Ledvinová J, Hyánek J, Zeman J, Sýkora J, Stozický F, Chlumská A, Lohse P. Elleder M, et al. Among authors: lohse p. Cas Lek Cesk. 1999 Nov 29;138(23):719-24. Cas Lek Cesk. 1999. PMID: 10746035 Czech.
Molecular defects underlying Wolman disease appear to be more heterogeneous than those resulting in cholesteryl ester storage disease.
Lohse P, Maas S, Sewell AC, van Diggelen OP, Seidel D. Lohse P, et al. J Lipid Res. 1999 Feb;40(2):221-8. J Lipid Res. 1999. PMID: 9925650 Free article.
The mutations provide new insights into the molecular basis of Wolman disease which is apparently more heterogeneous at the genetic level than cholesteryl ester storage disease.-Lohse, P., S. Maas, P. Lohse, A. C. Sewell, O. P. van Diggelen, and …
The mutations provide new insights into the molecular basis of Wolman disease which is apparently more heterogeneous at the genetic level th …
241 results