Partial iodide organification defect caused by a novel mutation of the thyroid peroxidase gene in three siblings

Clinical Endocrinology

Volumn 59, Issue 2, 2003, Pages 198-206

  Kotani, Tomio ^a   Umeki, Kazumi ^a   Kawano, Jun Ichi ^a   Suganuma, Tatsuo ^a   Hishinuma, Akira ^b   Ieiri, Tamio ^b   Harada, Shohei ^c  

^a UNIVERSITY OF MIYAZAKI   (Japan)

^b DOKKYO MEDICAL UNIVERSITY   (Japan)

^c Ikeda Municipal Hospital   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARTIC ACID; CYSTEINE; GLYCINE; IODIDE; LEUCINE; MESSENGER RNA; THYROID HORMONE; THYROID PEROXIDASE;

AMINO ACID SEQUENCE; ARTICLE; CASE REPORT; CELL MEMBRANE; CELL NUCLEUS MEMBRANE; CHILD GROWTH; DNA SEQUENCE; ENDOPLASMIC RETICULUM; ENZYME ACTIVITY; FEMALE; GENE MUTATION; GENETIC TRANSFECTION; HETEROZYGOSITY; HUMAN; HYPOTHYROIDISM; INFANT; MALE; MOLECULAR WEIGHT; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; SCHOOL CHILD; SEQUENCE ANALYSIS; SIBLING; THYROID HORMONE BLOOD LEVEL; THYROID HORMONE SYNTHESIS;

ANIMALS; BLOTTING, WESTERN; CHILD; CHO CELLS; CRICETINAE; FEMALE; FLUORESCENT ANTIBODY TECHNIQUE; GOITER; HETEROZYGOTE; HUMANS; INFANT; IODIDE PEROXIDASE; IODIDES; MALE; MICROSCOPY, IMMUNOELECTRON; MUTATION; RNA, MESSENGER; SEQUENCE ANALYSIS, DNA; TRANSFECTION;

EID: 0042666816     PISSN: 03000664     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2265.2003.01823.x     Document Type: Article

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