Two partial deletion mutations involving the same Alu sequence within intron 8 of the LDL receptor gene in Korean patients with familial hypercholesterolemia

Human Genetics

Volumn 99, Issue 2, 1997, Pages 155-163

  Chae, Jae Jin ^a   Park, Young Bae ^b   Kim, Sung Han ^a   Hong, Sung Soo ^a   Song, Gyun Jee ^a   Han, Ki Hoon ^b   Namkoong, Yong ^c   Kim, Hyo Soo ^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

[No Author keywords available]

Indexed keywords

CYSTEINE; LOW DENSITY LIPOPROTEIN RECEPTOR; VERY LOW DENSITY LIPOPROTEIN;

ADOLESCENT; ADULT; AGED; ALLELE; ALU SEQUENCE; ARTICLE; CHROMATID; CLINICAL ARTICLE; CROSSING OVER; DNA PROBE; EXON; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; HUMAN; INTRON; KOREA; MALE; MEIOSIS; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RECEPTOR GENE; RESTRICTION MAPPING; SCHOOL CHILD; SEQUENCE ANALYSIS; SOUTHERN BLOTTING;

ADOLESCENT; ADULT; BASE SEQUENCE; CHILD; DNA; FEMALE; HETEROZYGOTE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; INTRONS; KOREA; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; PEDIGREE; RECEPTORS, LDL; REPETITIVE SEQUENCES, NUCLEIC ACID; RESTRICTION MAPPING; SEQUENCE DELETION;

EID: 0031024741     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050331     Document Type: Article

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