Co-segregation of elevated LDL with a novel mutation (D92K) of the LDL receptor in a kindred with multiple lipoprotein abnormalities

Journal of Human Genetics

Volumn 45, Issue 3, 2000, Pages 154-158

  Wu, Lily L ^a   Hopkins, Paul N ^a   Xin, Yuanpei ^a   Stephenson, Susan H ^a   Williams, Roger R ^a   Nobe, Yukiko ^b   Kajita, Mitsuko ^b   Nakajima, Toshiaki ^b   Emi, Mitsuru ^b  

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

^b NIPPON MEDICAL SCHOOL   (Japan)

Author keywords

Familial combined hyperlipidemia; Hyperlipoproteinemia; LDL receptor; Lipoproteins

Indexed keywords

HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR; TRIACYLGLYCEROL;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CLINICAL ARTICLE; FAMILIAL HYPERLIPEMIA; FEMALE; GENE AMPLIFICATION; GENE MUTATION; GENE SEGREGATION; HUMAN; HYPERLIPOPROTEINEMIA; HYPERLIPOPROTEINEMIA TYPE 2; HYPERLIPOPROTEINEMIA TYPE 4; HYPERTRIGLYCERIDEMIA; MALE; NUCLEIC ACID BASE SUBSTITUTION; PEDIGREE ANALYSIS; POINT MUTATION; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0034080898     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380050202     Document Type: Article

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