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Evidence for a dominant gene that suppresses hypercholesterolemia in a family with defective low density lipoprotein receptors.
This paper describes an unusual kindred with familial hypercholesterolemia in which one-third of the relatives with a mutant LDL receptor gene have normal plasma cholesterol concentrations. The proband, a 9-yr-old boy with a plasma cholesterol value greater than 500 mg/dl, is homozygous for a point...
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| 出版年: | J Clin Invest |
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| 主要な著者: | , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
American Society for Clinical Investigation
1989
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| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC548929/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2760205/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI114212 |
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