Short report on DNA marker at candidate locus. A novel mutation M-21V in exon 1 of the low density lipoprotein receptor gene causing familial hypercholesterolemia

Clinical Genetics

Volumn 51, Issue 6, 1997, Pages 430-431

  Lombardi, Maria Paola ^a,b   Defesche, J C ^b   Kamerling, S W A ^a   Kastelein, J J P ^b   Havekes, L M ^a  

^a TNO   (Netherlands)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

LOW DENSITY LIPOPROTEIN RECEPTOR; PRIMER DNA;

ARTICLE; CONTROLLED STUDY; DNA DETERMINATION; FAMILIAL HYPERCHOLESTEROLEMIA; GENE FREQUENCY; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; EXON; GENETIC MARKER; GENETIC VARIABILITY; GENETICS; HYPERLIPOPROTEINEMIA TYPE 2; METHODOLOGY; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION;

BASE SEQUENCE; DNA PRIMERS; EXONS; GENE FREQUENCY; GENETIC MARKERS; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MOLECULAR SEQUENCE DATA; MUTATION; POLYMERASE CHAIN REACTION; RECEPTORS, LDL; VARIATION (GENETICS);

EID: 0031155019     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1997.tb02505.x     Document Type: Article

References (4)

1. References: Hultman T, Stahl S, Homes E, Ublen M. Direct solid phase sequencing of genomic and plasmid DNA using magnetic beads and solid support. Nucleic Acid Res 1989: 17: 4937-4946.
2. Langenhoven E, Warnich L, Thiart R, Rubinsztein DC, van der Westhuyzen DR, Marais AD, Kotze MJ. Two novel point mutations causing receptor-negative familial hypercholesterolemia in a South African Indian homozygote. Atherosclerosis 1996: 125: 111-119.
3. Lombardi P, Sijbrands EJG, van de Giessen K, Smelt AHM, Kastelein JJP, Frants RR, Havekes LM. Mutations of the low density lipoprotein receptor gene of familial hypercholesterolemic patients detected by denaturing gradient gel electrophoresis and direct sequencing. J Lipid Res 1995: 36: 860-867.
4. Yamamoto T, Davis CG, Brown MS, Schneider WJ, Casey ML, Goldstein, Russell DW. The human LDL receptor: a cysteine-rich protein with multiple Alu sequences in its mRNA. Cell 1984: 39: 27-38.