Monoallelic expression of mutant thyroid peroxidase allele causing total iodide organification defect

Journal of Clinical Endocrinology and Metabolism

Volumn 88, Issue 7, 2003, Pages 3264-3271

  Fugazzola, L ^a,b   Cerutti, N ^a   Mannavola, D ^a   Vannucchi, G ^a   Fallini, C ^a   Persani, L ^a,c   Beck Peccoz, Paolo ^a,b  

^a UNIVERSITY OF MILAN   (Italy)

^b FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^c ISTITUTO AUXOLOGICO ITALIANO   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; GENOMIC DNA; IODIDE; RNA; THYROID PEROXIDASE; THYROXINE;

ALLELE; AMINO ACID SEQUENCE; ARTICLE; CASE REPORT; CONGENITAL HYPOTHYROIDISM; DNA METHYLATION; FAMILY STUDY; FEMALE; FIBROBLAST CULTURE; GENE MUTATION; GENETIC ANALYSIS; GENETIC POLYMORPHISM; HUMAN; HUMAN CELL; HYPOTHYROIDISM; LEUKOCYTE; MALE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ADULT; ALLELES; AMINO ACID SEQUENCE; CELLS, CULTURED; DNA METHYLATION; DNA MUTATIONAL ANALYSIS; EXONS; FAMILY HEALTH; FEMALE; FIBROBLASTS; GENE EXPRESSION; HETEROZYGOTE; HUMANS; IODIDE PEROXIDASE; IODIDES; LEUKOCYTES; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PHENOTYPE; RNA, MESSENGER; SKIN; THYROID GLAND;

EID: 0037961011     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2002-021377     Document Type: Article

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