Linked Life Data

1944467

Source:http://linkedlifedata.com/resource/pubmed/id/1944467

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
24
pubmed:dateCreated
1991-12-17
pubmed:abstractText
The fragile X syndrome, the most common form of inherited mental retardation, is caused by mutations that increase the size of a specific DNA fragment of the X chromosome (in Xq27.3). Affected persons have both a full mutation and abnormal DNA methylation. Persons with a smaller increase in the size of this DNA fragment (a premutation) have little or no risk of retardation but are at high risk of having affected children or grandchildren. The passage from premutation to full-mutation status occurs only with transmission from the mother. We have devised a method of identifying carriers of these mutations by direct DNA analysis.
pubmed:commentsCorrections
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
0028-4793
pubmed:author
pubmed:issnType
Print
pubmed:day
12
pubmed:volume
325
pubmed:owner
NLM
pubmed:authorsComplete
N
pubmed:pagination
1673-81
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed:year
1991
pubmed:articleTitle
Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation.
pubmed:affiliation
Institut National de la Santé et de la Recherche Médicale (INSERM), Unité 184, Strasbourg, France.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't