Familial hypercholesterolemia in Utah kindred with novel 2412-6 Ins G mutations in exon 17 of the LDL receptor gene

Japanese Heart Journal

Volumn 40, Issue 4, 1999, Pages 435-441

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

^a NIPPON MEDICAL SCHOOL   (Japan)

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

Author keywords

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

Indexed keywords

LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR; NUCLEOTIDE;

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHILD; CHOLESTEROL BLOOD LEVEL; CLINICAL ARTICLE; DNA DETERMINATION; DNA SEQUENCE; EXON; FAMILIAL HYPERCHOLESTEROLEMIA; FAMILY STUDY; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC SCREENING; HETEROZYGOTE DETECTION; HUMAN; HUMAN TISSUE; INTRON; MALE; MONOGENIC DISORDER; POINT MUTATION; PRIORITY JOURNAL; RECEPTOR GENE; UNITED STATES; XANTHOMA;

CHILD; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; HOMOZYGOTE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MALE; MIDDLE AGED; PEDIGREE; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RECEPTORS, LDL;

EID: 0032875753     PISSN: 00214868     EISSN: None     Source Type: Journal    
DOI: 10.1536/jhj.40.435     Document Type: Article

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