Linked Life Data

9169038

Source:http://linkedlifedata.com/resource/pubmed/id/9169038

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1997-6-18
pubmed:abstractText
We present cytogenetic, immunologic, and molecular data obtained over 7 years from a family with ataxia telangiectasia (AT) including 2 affected children and their unaffected sibling, and their obligate heterozygous parents. In a period of 3 years, the T lymphocytes from both AT patients showed clonal rearrangements of chromosomes 7 and 14 at specific bands (7p13, 7q35, 14q12, and 14q32), where loci for the Ig and TCH genes are located. A molecular study was carried out on peripheral blood and bone marrow samples from both patients using Southern blot and PCR for Ig and TCR genes. A monoclonal population for TCR gamma was observed in one of the two affected children, but only in peripheral blood.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
0165-4608
pubmed:author
pubmed:issnType
Print
pubmed:volume
95
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
178-82
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1997
pubmed:articleTitle
Cytogenetic and molecular studies of siblings with ataxia telangiectasia followed for 7 years.
pubmed:affiliation
Department of Genetics, Jimenez Díaz Foundation, Madrid, Spain.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't