Total iodide organification defect: Clinical and molecular characterization of an Italian family

Thyroid

Volumn 15, Issue 9, 2005, Pages 1085-1088

  Fugazzola, Laura ^a,b   Mannavola, Deborah ^a   Vigone, Maria Cristina ^d   Cirello, Valentina ^a   Weber, Giovanna ^d   Beck Peccoz, Paolo ^a,b   Persani, Luca ^a,c  

^a UNIVERSITY OF MILAN   (Italy)

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

^c ISTITUTO AUXOLOGICO ITALIANO   (Italy)

^d SAN RAFFAELE HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOSINE; GUANINE; IODIDE; LEVOTHYROXINE; PERCHLORATE; THYROID PEROXIDASE;

ARTICLE; CASE REPORT; CONGENITAL HYPOTHYROIDISM; DIAGNOSTIC TEST; ENZYME DEFICIENCY; EXON; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE DUPLICATION; GENE LOCUS; GENETICS; HETEROZYGOSITY; HOMOZYGOSITY; HORMONE SUBSTITUTION; HUMAN; IN VIVO STUDY; ITALY; PHENOTYPE; PRIORITY JOURNAL; RECESSIVE INHERITANCE; SCHOOL CHILD; THYROID DISEASE; THYROID FUNCTION; THYROID GLAND; TOTAL IODIDE ORGANIFICATION DEFECT; TPO GENE;

ADULT; ALLELES; CHILD; FAMILY; FEMALE; HUMANS; IODIDE PEROXIDASE; IODIDES; ITALY; MALE; METABOLISM, INBORN ERRORS; PEDIGREE; THYROID FUNCTION TESTS;

EID: 26944432670     PISSN: 10507256     EISSN: None     Source Type: Journal    
DOI: 10.1089/thy.2005.15.1085     Document Type: Article

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