A double mutant LDL receptor allele in a Cypriot family with heterozygous familial hypercholesterolemia

Human Genetics

Volumn 100, Issue 1, 1997, Pages 101-103

  Kotze, Maritha J ^a   De Villiers, J Nico P ^a   Loubser, Odell ^a   Thiart, Rochelle ^a   Scholtz, Charlotte L ^a   Raal, Frederick J ^b  

^a UNIVERSITY OF STELLENBOSCH   (South Africa)

^b UNIVERSITY OF THE WITWATERSRAND   (South Africa)

Author keywords

[No Author keywords available]

Indexed keywords

LOW DENSITY LIPOPROTEIN RECEPTOR;

ARTICLE; CYPRUS; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; GENE MUTATION; HETEROZYGOTE; HUMAN; PRIORITY JOURNAL; RECEPTOR GENE; RESTRICTION MAPPING; STOP CODON;

ADOLESCENT; ADULT; ALLELES; CHILD; CHILD, PRESCHOOL; CYPRUS; DEOXYRIBONUCLEASES, TYPE II SITE-SPECIFIC; EXONS; FEMALE; HAPLOTYPES; HETEROZYGOTE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MALE; PEDIGREE; POINT MUTATION; RECEPTORS, LDL;

EID: 0030752538     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050473     Document Type: Article

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