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Polymorphic DNA haplotypes at the LDL receptor locus.

Mutations in the low-density lipoprotein (LDL) receptor gene result in the autosomal dominant disorder familial hypercholesterolemia (FH). Many different LDL receptor mutations have been identified and characterized, demonstrating a high degree of allelic heterogeneity at this locus. The ability to...

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Autors principals: Leitersdorf, E, Chakravarti, A, Hobbs, H H
Format: Artigo
Idioma:Inglês
Publicat: 1989
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1715440/
https://ncbi.nlm.nih.gov/pubmed/2563635
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