rdf:type |
|
lifeskim:mentions |
|
pubmed:issue |
4
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pubmed:dateCreated |
2001-10-12
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pubmed:abstractText |
We identified a novel mutation (CGC to T GC) at codon 31 of the Paired box 8 gene, an important transcription factor in the development of the thyroid gland. Mutations at this codon have been independently reported in 2 cases (CGC to CA C). These transitions are considered typical CpG-consequence mutations and account for hypermutability at this position.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/Codon,
http://linkedlifedata.com/resource/pubmed/chemical/DNA-Binding Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Nuclear Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/PAX8 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/Paired Box Transcription Factors,
http://linkedlifedata.com/resource/pubmed/chemical/Thyroglobulin,
http://linkedlifedata.com/resource/pubmed/chemical/Thyrotropin,
http://linkedlifedata.com/resource/pubmed/chemical/Thyroxine,
http://linkedlifedata.com/resource/pubmed/chemical/Trans-Activators,
http://linkedlifedata.com/resource/pubmed/chemical/Triiodothyronine
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pubmed:status |
MEDLINE
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pubmed:month |
Oct
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pubmed:issn |
0022-3476
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pubmed:author |
|
pubmed:issnType |
Print
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pubmed:volume |
139
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
597-9
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pubmed:dateRevised |
2005-11-17
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pubmed:meshHeading |
pubmed-meshheading:11598612-Adult,
pubmed-meshheading:11598612-Child,
pubmed-meshheading:11598612-Codon,
pubmed-meshheading:11598612-DNA-Binding Proteins,
pubmed-meshheading:11598612-Female,
pubmed-meshheading:11598612-Humans,
pubmed-meshheading:11598612-Hypothyroidism,
pubmed-meshheading:11598612-Mutation, Missense,
pubmed-meshheading:11598612-Nuclear Proteins,
pubmed-meshheading:11598612-Paired Box Transcription Factors,
pubmed-meshheading:11598612-Polymerase Chain Reaction,
pubmed-meshheading:11598612-Thyroglobulin,
pubmed-meshheading:11598612-Thyroid Diseases,
pubmed-meshheading:11598612-Thyrotropin,
pubmed-meshheading:11598612-Thyroxine,
pubmed-meshheading:11598612-Trans-Activators,
pubmed-meshheading:11598612-Triiodothyronine
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pubmed:year |
2001
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pubmed:articleTitle |
Thyroid dysgenesis caused by PAX8 mutation: the hypermutability with CpG dinucleotides at codon 31.
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pubmed:affiliation |
Department of Pediatrics, Akita University School of Medicine, Akita, Japan.
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pubmed:publicationType |
Journal Article,
Case Reports
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