Mutations of the low density lipoprotein (LDL) receptor in 16 Japanese kindreds with homozygous familial hypercholesterolemia (FH) were studied using an anti-LDL receptor antibody. The LDL receptor mutations in Japanese FH were heterogeneous and included defects in synthesis, post-translational proc
Heterozygous familial hypercholesterolemia in children: low-density lipoprotein receptor mutational analysis and variation in the expression of plasma lipoprotein-lipid concentrations
✍ Scribed by Ana L. Torres; Sital Moorjani; Marie-Claude Vohl; Claude Gagné; Benoît Lamarche; Louis-Daniel Brun; Paul-J Lupien; Jean-Pierre Després
- Book ID
- 118326411
- Publisher
- Elsevier Science
- Year
- 1996
- Tongue
- English
- Weight
- 925 KB
- Volume
- 126
- Category
- Article
- ISSN
- 0021-9150
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We have evaluated whether low density lipoprotein (LDL) receptor activity of stimulated lymphocytes, as measured by an improved flow cytometric assay, may be used to diagnose familial hypercholesterolemia (FH). Cells were isolated from 75 children suspected from strict clinical criteria to be FH het
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## Communicated fq L e n a Peltonen A combined deletiodinversion rearrangement of the LDL receptor gene was discovered in a Finnish patient with heterozygous familial hypercholesterolemia (FH). Sequence analysis of the mutated allele revealed an insertion of 4 nucleotides in exon 11, caused by a c