Novel and recurrent mutations of the LDL receptor gene in Korean patients with familial hypercholesterolemia

Molecules and Cells

Volumn 18, Issue 1, 2004, Pages 63-70

  Kim, Ji Hyun ^e   Choi, Ho Kap ^e   Lee, Haeyul ^e   Park, Hyun Young ^a   Kim, Jeong Ho ^b   Kim, Jong Won ^c   Kim, Hyon J ^d   Lee, Seung Taek ^e  

^a Yonsei University College of Medicine   (South Korea)

^b Yonsei University College of Medicine   (South Korea)

^c Sungkyunkwan University School of Medicine   (South Korea)

^d Ajou University School of Medicine   (South Korea)

^e Yonsei University   (South Korea)

Author keywords

Familial cholesterolemia; Korean patients; LDL receptor; Novel mutations; Recurrent mutations

Indexed keywords

ADENINE; CYTOSINE; GUANINE; LOW DENSITY LIPOPROTEIN RECEPTOR; NUCLEOTIDE; POLYPEPTIDE; THYMINE;

ADULT; AGED; ARTICLE; CELL SURFACE; CELL TRANSPORT; CLINICAL ARTICLE; CONTROLLED STUDY; EARLY DIAGNOSIS; ENDOPLASMIC RETICULUM; ETHNIC DIFFERENCE; ETHNOLOGY; EXON; FAMILIAL HYPERCHOLESTEROLEMIA; FAMILY; FEMALE; GENE DELETION; GENE DUPLICATION; GENE IDENTIFICATION; GENE INSERTION; GENE MUTATION; HETEROZYGOSITY; HIGH RISK POPULATION; HUMAN; HUMAN CELL; HUMAN TISSUE; KOREA; MALE; MOLECULAR SIZE; NUCLEOTIDE SEQUENCE; PRENATAL DIAGNOSIS; PROTEIN PROCESSING; PROTEIN STRUCTURE;

ADOLESCENT; ADULT; AGED; ANIMALS; CHILD; CHO CELLS; CRICETINAE; DNA MUTATIONAL ANALYSIS; FEMALE; FIBROBLASTS; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; KOREA; MALE; MIDDLE AGED; MUTATION; RECEPTORS, LDL;

EID: 6344292473     PISSN: 10168478     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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