Identification of a novel mutation for phytosterolemia. Genetic analyses of 2 cases

Clinica Chimica Acta

Volumn 401, Issue 1-2, 2009, Pages 165-169

  Togo, Masako ^a   Hashimoto, Yoshiaki ^a   Iso O, Naoyuki ^b   Kurano, Makoto ^a   Hara, Masumi ^a   Kadowaki, Takashi ^a   Koike, Kazuhiko ^a   Tsukamoto, Kazuhisa ^a  

^a UNIVERSITY OF TOKYO   (Japan)

^b UNIVERSITY OF TOKYO   (Japan)

Author keywords

ABCG5; Phytosterolemia; Point mutation; Tandem repeat

Indexed keywords

CAMPESTEROL; COLESTYRAMINE; SITOSTEROL;

ABCG5 GENE; ABCG8 GENE; ADULT; AMINO ACID SUBSTITUTION; ANAMNESIS; ARTICLE; BASE PAIRING; CASE REPORT; DIET THERAPY; DISEASE COURSE; DNA DETERMINATION; DRUG MECHANISM; EXON; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HYPERCHOLESTEROLEMIA; JAPANESE; LABORATORY TEST; LIPIDOSIS; MUTATOR GENE; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SITOSTEROLEMIA; STEROL ANALYSIS; STOP CODON; TANDEM REPEAT; TREATMENT OUTCOME;

EID: 58549093397     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cca.2008.10.026     Document Type: Article

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