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Multiple crm- mutations in familial hypercholesterolemia. Evidence for 13 alleles, including four deletions.

The low density lipoprotein (LDL) receptors in fibroblasts from 132 subjects with the clinical syndrome of homozygous familial hypercholesterolemia were analyzed by immunoprecipitation with an anti-LDL receptor monoclonal antibody. 16 of the 132 cell strains (12%) synthesized no immunodetectable LDL...

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Detalles Bibliográficos
Main Authors: Hobbs, H H, Leitersdorf, E, Goldstein, J L, Brown, M S, Russell, D W
Formato: Artigo
Idioma:Inglês
Publicado: 1988
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC442544/
https://ncbi.nlm.nih.gov/pubmed/3343347
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