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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
2
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pubmed:dateCreated |
2006-2-1
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pubmed:abstractText |
Iodide organification defects are associated with mutations in the dual oxidase 2 (DUOX2) gene and are characterized by a positive perchlorate discharge test. These mutations produce a congenital goitrous hypothyroidism, usually transmitted in an autosomal recessive mode.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Feb
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pubmed:issn |
0009-9147
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
52
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
182-91
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:16322276-Animals,
pubmed-meshheading:16322276-Base Sequence,
pubmed-meshheading:16322276-Child, Preschool,
pubmed-meshheading:16322276-Congenital Hypothyroidism,
pubmed-meshheading:16322276-Female,
pubmed-meshheading:16322276-Flavoproteins,
pubmed-meshheading:16322276-Heterozygote,
pubmed-meshheading:16322276-Humans,
pubmed-meshheading:16322276-Iodides,
pubmed-meshheading:16322276-Male,
pubmed-meshheading:16322276-Molecular Sequence Data,
pubmed-meshheading:16322276-Mutation,
pubmed-meshheading:16322276-NADPH Oxidase,
pubmed-meshheading:16322276-Pedigree,
pubmed-meshheading:16322276-Polymorphism, Single-Stranded Conformational,
pubmed-meshheading:16322276-Sequence Homology, Nucleic Acid,
pubmed-meshheading:16322276-Thyroid Function Tests,
pubmed-meshheading:16322276-Thyroid Gland
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pubmed:year |
2006
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pubmed:articleTitle |
Three mutations (p.Q36H, p.G418fsX482, and g.IVS19-2A>C) in the dual oxidase 2 gene responsible for congenital goiter and iodide organification defect.
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pubmed:affiliation |
Laboratorio de Biología Molecular, Facultad de Farmacia y Bioquímica, Universidad de Buenos Aires, Buenos Aires, Argentina.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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