A novel LDLR mutation, H190Y, in a Utah kindred with familial hypercholesterolemia

Journal of Human Genetics

Volumn 44, Issue 6, 1999, Pages 364-367

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

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

^b NIPPON MEDICAL SCHOOL   (Japan)

Author keywords

Familial hypercholesterolemia; Genetic diagnosis; Hyperlipoproteinemia; LDL receptor; Lipoproteins

Indexed keywords

DNA; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; HISTIDINE; LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR; TRIACYLGLYCEROL; TYROSINE;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; CORONARY ARTERY DISEASE; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; GENETIC ANALYSIS; HETEROZYGOSITY; HUMAN; HUMAN CELL; MALE; POINT MUTATION; PRESCHOOL CHILD; SINGLE STRAND CONFORMATION POLYMORPHISM; UNITED STATES;

EID: 0032727536     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380050179     Document Type: Article

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