• Mutation; HGNC; 6547; LDLR; Simple; p.Cys197Phe (c.590G>T) (C176F); ClinVar=VCV000251309; Zygosity=Heterozygous (PubMed=29308438).
  
• Mutation; HGNC; 6547; LDLR; Simple; p.Asp304Asn (c.910G>A) (D283N); ClinVar=VCV000003692; Zygosity=Heterozygous (PubMed=29308438).
  

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(In) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977)

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Joe C.O., Norman J.O., Irvin T.R., Busbee D.L.
DNA polymerase activity in a repair-deficient human cell line.
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CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992)

PubMed=29308438; DOI=10.1016/j.jacbts.2016.06.006
Villard E.F., Thedrez A., Blankenstein J., Croyal M., Tran T.-T.-T., Poirier B., Le Bail J.-C., Illiano S., Nobecourt E., Krempf M., Blom D.J., Marais A.D., Janiak P., Muslin A.J., Guillot E., Lambert G.
PCSK9 modulates the secretion but not the cellular uptake of lipoprotein(a) ex vivo: an effect blunted by alirocumab.
JACC Basic Transl. Sci. 1:419-427(2016)