A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigree

Human Genetics

Volumn 114, Issue 4, 2004, Pages 349-353

  Timms, Kirsten M ^a   Wagner, Susanne ^a   Samuels, Mark E ^a   Forbey, Kristian ^a   Goldfine, Howard ^a   Jammalapati, Srikanth ^a   Skolnick, Mark H ^a   Hopkins, Paul N ^b   Hunt, Steve C ^b   Shattuck, Donna M ^a  

^a Myriad Genetic Laboratories   (United States)

^b UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

Autosomal dominant hypercholesterolemia; Chromosome 1p32; PCSK9

Indexed keywords

APOLIPOPROTEIN B; GUANINE; LOW DENSITY LIPOPROTEIN RECEPTOR; PROTEIN PCSK9; SERINE PROTEINASE; THYMINE; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; CONTROLLED STUDY; FAMILIAL HYPERCHOLESTEROLEMIA; GENE LOCUS; GENE MUTATION; GENETIC LINKAGE; GENETIC SCREENING; GENETIC VARIABILITY; HAPLOTYPE; HETEROZYGOTE; HUMAN; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PEDIGREE ANALYSIS; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; UNITED STATES;

FEMALE; GENES, DOMINANT; HAPLOTYPES; HETEROZYGOTE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; LOD SCORE; MALE; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; POINT MUTATION; SERINE ENDOPEPTIDASES; UTAH;

EID: 12144285659     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-003-1071-9     Document Type: Article

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