ID   MN20
RX   PubMed=6272292;
CC   Sequence variation: Homozygous for LDLR Ex16-18del (JCRB).
ST   Source(s): JCRB
ST   Amelogenin: X
ST   CSF1PO: 11,12
ST   D13S317: 11,13
ST   D16S539: 10,12
ST   D5S818: 11,13
ST   D7S820: 10,11
ST   TH01: 6,9
ST   TPOX: 8,11
ST   vWA: 16
DI   NCIt; C123416; Familial hypercholesterolemia
DI   ORDO; Orphanet_391665; Homozygous familial hypercholesterolemia
OX   NCBI_TaxID=9606; ! Homo sapiens
SX   Female
AG   19Y
CA   Finite cell line
DT   Created: 13-11-18; Last updated: 12-03-20; Version: 2
RX   PubMed=6272292; DOI=10.1073/pnas.78.8.5151;
RA   Miyake Y., Tajima S., Yamamura T., Yamamoto A.;
RT   "Homozygous familial hypercholesterolemia mutant with a defect in
RT   internalization of low density lipoprotein.";
RL   Proc. Natl. Acad. Sci. U.S.A. 78:5151-5155(1981).