Five novel inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defect.

Human mutation

Volumn 22, Issue 3, 2003, Pages 259-

  Rivolta, Carina M ^a   Esperante, Sebastián A ^a   Gruñeiro Papendieck, Laura ^a   Chiesa, Ana ^a   Moya, Christian M ^a   Domené, Sabina ^a   Varela, Viviana ^a   Targovnik, Héctor M ^a  

^a UNIVERSIDAD DE BUENOS AIRES   (Argentina)

Author keywords

[No Author keywords available]

Indexed keywords

IODIDE; IODIDE PEROXIDASE;

ARTICLE; ENZYMOLOGY; FRAMESHIFT MUTATION; GENE SILENCING; GENETICS; GOITER; HUMAN; HYPOTHYROIDISM; METABOLISM; MISSENSE MUTATION; MUTATION; PATHOLOGY; PATHOPHYSIOLOGY; RECESSIVE GENE; THYROID GLAND;

FRAMESHIFT MUTATION; GENE SILENCING; GENES, RECESSIVE; GOITER; HUMANS; HYPOTHYROIDISM; IODIDE PEROXIDASE; IODIDES; MUTATION; MUTATION, MISSENSE; THYROID GLAND;

MLCS; MLOWN;

EID: 0142061533     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9175     Document Type: Article

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