A truncating TPO mutation (Y55X) in patients with hypothyroidism and total iodide organification defect

Endocrine Research

Volumn 40, Issue 3, 2015, Pages 146-150

  Cangul, Hakan ^a   Darendeliler, Feyza ^b   Saglam, Yaman ^c   Kucukemre, Banu ^b   Kendall, Michaela ^d   Boelaert, Kristien ^e   Barrett, Timothy G ^e   Maher, Eamonn R ^f  

^a BAHCESEHIR UNIVERSITY   (Turkey)

^b ISTANBUL UNIVERSITY   (Turkey)

^c Medical Park Goztepe Hospital   (Turkey)

^d UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^e UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^f UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

Congenital hypothyroidism; Genetics; Molecular; Mutation; Thyroid dyshormonogenesis; TPO gene

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CONGENITAL HYPOTHYROIDISM; CONSANGUINEOUS MARRIAGE; EXON; FEMALE; GENE; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC LINKAGE; HAPLOTYPE; HUMAN; MALE; MICROSATELLITE MARKER; NONSENSE MUTATION; PRIORITY JOURNAL; STOP CODON; TOTAL IODODE ORGANIFICATION DEFECT; TPO GENE; YOUNG ADULT; CHILD; DNA MUTATIONAL ANALYSIS; GENETICS; INFANT; MUTATION; PRESCHOOL CHILD; SIBLING;

AUTOANTIGEN; IODIDE PEROXIDASE; IRON BINDING PROTEIN; TPO PROTEIN, HUMAN;

ADOLESCENT; AUTOANTIGENS; CHILD; CHILD, PRESCHOOL; CONGENITAL HYPOTHYROIDISM; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; INFANT; IODIDE PEROXIDASE; IRON-BINDING PROTEINS; MALE; MUTATION; SIBLINGS;

EID: 84936929465     PISSN: 07435800     EISSN: 15324206     Source Type: Journal    
DOI: 10.3109/07435800.2014.967354     Document Type: Article

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