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rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
7
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pubmed:dateCreated |
2008-7-17
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|
pubmed:abstractText |
Thyroglobulin (Tg) is a large glycoprotein that is intimately involved in the biosynthesis of thyroxine and triiodothyronine. At least 38 mutations have been described in the Tg gene that are associated with varying degrees of hypothyroidism. We studied the Tg gene in four related subjects with congenital hypothyroidism.
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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 |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Jul
|
|
pubmed:issn |
1050-7256
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
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pubmed:volume |
18
|
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pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
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pubmed:pagination |
783-6
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pubmed:meshHeading |
pubmed-meshheading:18631008-Brazil,
pubmed-meshheading:18631008-Child,
pubmed-meshheading:18631008-Child, Preschool,
pubmed-meshheading:18631008-Congenital Hypothyroidism,
pubmed-meshheading:18631008-Female,
pubmed-meshheading:18631008-Humans,
pubmed-meshheading:18631008-Male,
pubmed-meshheading:18631008-Mutation,
pubmed-meshheading:18631008-Pedigree,
pubmed-meshheading:18631008-Phenotype,
pubmed-meshheading:18631008-Thyroglobulin,
pubmed-meshheading:18631008-Thyrotropin,
pubmed-meshheading:18631008-Thyroxine,
pubmed-meshheading:18631008-Triiodothyronine
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|
pubmed:year |
2008
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|
pubmed:articleTitle |
Phenotypic variation among four family members with congenital hypothyroidism caused by two distinct thyroglobulin gene mutations.
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pubmed:affiliation |
Thyroid Study Unit (LIM-25), Division of Endocrinology, University of São Paulo Medical School, São Paulo, Brazil.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
|
