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July 1, 1997Arteriosclerosis Thrombosis and Vascular BiologyOpen Access

Familial Moderate Hypercholesterolemia Caused by Asp235→Glu Mutation of the LDL Receptor Gene and Co-occurrence of a De Novo Deletion of the LDL Receptor Gene in the Same Family

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Authors

UKUlla‐Maija KoivistoOulu University HospitalHGHelena GyllingUniversity of HelsinkiTMTatu A. MiettinenTakeda (France)

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Cite This Study

Koivisto et al. (1997) studied this question.

synapsesocial.com/papers/6a9b1ca7842ff96048ec77afhttps://doi.org/10.1161/01.atv.17.7.1392
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Also Consider

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  1. 1Effect of the StuI polymorphism in the LDL receptor gene (Ala 370 to Thr) on lipid levels in healthy individuals1995 · 31 citations
  2. 2Detection of Familial Hypercholesterolemia by Assaying Functional Low-Density-Lipoprotein Receptors on Lymphocytes1986 · 106 citations
  3. 3Prevalence and geographical distribution of major LDL receptor gene rearrangements in Finland1992 · 37 citations
  4. 4The familial hypercholesterolemia (FH)-North Karelia mutation of the low density lipoprotein receptor gene deletes seven nucleotides of exon 6 and is a common cause of FH in Finland.1992 · 106 citations
  5. 5Heterozygous familial hypercholesterolaemia: the influence of the mutation type of the low‐density‐lipoprotein receptor gene and PvuII polymorphism of the normal allele on serum lipid levels and response to lovastatin treatment1995 · 42 citations