• Mutation; HGNC; HGNC:6547; LDLR; Simple; p.Gly219del (c.651TGG[1]) (c.654_656delTGG) (G197del, c.652delGGT); ClinVar=VCV000226329; Zygosity=Heterozygous (Coriell=GM01448).
  

DOI=10.5962/bhl.title.4090
Lewis Lemon Coriell, Arthur E. Greene;
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977)

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=12406975; DOI=10.1093/clinchem/48.11.1913
Olaf A. Bodamer, Dan Bercovich, Michael Schlabach, Christie Ballantyne, Daniele Zoch, Arthur L. Beaudet;
Use of denaturing HPLC to provide efficient detection of mutations causing familial hypercholesterolemia.
Clin. Chem. 48:1913-1918(2002)