Identification of four novel mutations of the low-density lipoprotein receptor gene in Korean patients with familial hypercholesterolemia

Clinical Genetics

Volumn 57, Issue 3, 2000, Pages 225-229

  Shin, Jin A ^a   Kim, Sung Han ^a   Kim, Un Kyung ^a   Chae, Jae Jin ^a   Choe, Seong Joon ^b   Namkoong, Yong ^c   Kim, Hyo Soo ^b   Park, Young Bae ^b   Lee, Chung Choo ^a  

^a Seoul National University   (South Korea)

^b Seoul National University Hospital   (South Korea)

^c Gangneung Wonju National University   (South Korea)

Author keywords

Familial hypercholesterolemia; Low density lipoprotein receptor gene; Point mutation; Single strand conformation polymorphism

Indexed keywords

ALANINE; CYSTEINE; GLUTAMIC ACID; LEUCINE; LOW DENSITY LIPOPROTEIN RECEPTOR; PROLINE; SIGNAL PEPTIDE; TYROSINE;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DELETION MUTANT; EXON; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; GENE MUTATION; GENETIC CONSERVATION; HETEROZYGOTE; HUMAN; KOREA; MALE; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; POINT MUTATION; PRIORITY JOURNAL; PROMOTER REGION; RECEPTOR GENE; SINGLE STRAND CONFORMATION POLYMORPHISM; STOP CODON;

ADULT; DNA MUTATIONAL ANALYSIS; EXONS; FAMILY HEALTH; FEMALE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; KOREA; MALE; MIDDLE AGED; MUTATION; MUTATION, MISSENSE; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RECEPTORS, LDL;

EID: 0034031034     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2000.570309.x     Document Type: Article

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