A novel V415A mutation in exon 9 of the low density lipoprotein receptor gene causing familial hypercholesterolemia

Clinical Genetics

Volumn 51, Issue 4, 1997, Pages 286-287

  Lombardi, 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

DNA MARKER; LOW DENSITY LIPOPROTEIN RECEPTOR;

ARTICLE; CONTROLLED STUDY; FAMILIAL HYPERCHOLESTEROLEMIA; GENE FREQUENCY; GENE LOCUS; GENE SEQUENCE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

EID: 0030996823     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1997.tb02473.x     Document Type: Article

References (4)

1. Hobbs HH, Brown MS, Goldstein JL. Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. Hum Mutat 1992: 1: 445-466.
2. Hultman T, Stahl S, Homes E, Uhlen M. Direct solid phase sequencing of genomic and plasmid DNA using magnetic beads and solid support. Nucleic Acid Res 1989: 17: 4937-4946.
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 JL, Russell DW. The human LDL receptor: a cysteine-rich protein with multiple Alu sequences in its mRNA. Cell 1984: 39: 27-38.