Linked Life Data

8094490

Source:http://linkedlifedata.com/resource/pubmed/id/8094490

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
8843
pubmed:dateCreated
1993-3-18
pubmed:abstractText
Simple goitre is defined as an enlargement of the thyroid gland that is not the result of an inflammatory or neoplastic process and is not associated with thyrotoxicosis or myxoedema; the cause is unknown in most cases. Structural or regulatory defects in the proteins involved in thyroid metabolism might be involved in the functional abnormality that brings about the disorder. We have found a mutation within exon 10 of the thyroglobulin gene in 25 of 56 members of three families affected by simple goitre; 14 of the gene carriers had the disorder. DNA sequencing showed a mis-sense mutation within thyroglobulin gene exon 10, resulting in a glutamine to histidine substitution. Thus, some cases of non-endemic simple goitre are associated with a mutation at the thyroglobulin locus.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
0140-6736
pubmed:author
pubmed:issnType
Print
pubmed:day
20
pubmed:volume
341
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
462-4
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed:year
1993
pubmed:articleTitle
Thyroglobulin gene point mutation associated with non-endemic simple goitre.
pubmed:affiliation
Departamento de Medicina-Unidad de Genética Molecular, Universidad de Salamanca, Spain.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't