|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
6 Suppl
|
|
pubmed:dateCreated |
1995-2-24
|
|
pubmed:abstractText |
The genotyping data given localize the major A-T gene to an approximately 850 kb region. They also localize the group A A-T gene (ATA) to a region that contains the approximately 850 kb region. They are compatible with linking A-TFresno to 11q22-23. NBS-V2 does not link to this region. Four non-linking families contain only single affecteds, suggesting that these may be spontaneous mutations rather than evidence for an A-T gene outside the 11q22-23 region. Finally, two other non-linking families contain recombinant haplotypes that are compatible with a second A-T gene at 11q22-23, slightly distal to the approximately 850 kb region. However, convincing evidence for a second gene is still lacking.
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Dec
|
|
pubmed:issn |
0955-3002
|
|
pubmed:author |
pubmed-author:BorresenA LAL,
pubmed-author:ChessaLL,
pubmed-author:ChewAA,
pubmed-author:ChiplunkarSS,
pubmed-author:ConcannonPP,
pubmed-author:CurryCC,
pubmed-author:DandekarSS,
pubmed-author:ElashoffMM,
pubmed-author:GattiR ARA,
pubmed-author:GerkenSS,
pubmed-author:LangeEE,
pubmed-author:LangeKK,
pubmed-author:LiangTT,
pubmed-author:McConvilleCC,
pubmed-author:PolikowJJ,
pubmed-author:PorrasOO,
pubmed-author:RotmanGG,
pubmed-author:SanalOO,
pubmed-author:SheikhavandiSS,
pubmed-author:ShilohYY,
pubmed-author:TaylorMM,
pubmed-author:TeletarMM,
pubmed-author:UdarNN,
pubmed-author:UhrhammerNN,
pubmed-author:WangZZ,
pubmed-author:WegnerR DRD,
pubmed-author:YangH MHM,
pubmed-author:YangLL
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
66
|
|
pubmed:geneSymbol |
A-T,
A-T<down>FRESNO</down>,
ATA
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
S57-62
|
|
pubmed:dateRevised |
2010-11-18
|
|
pubmed:meshHeading |
pubmed-meshheading:7836853-Adult,
pubmed-meshheading:7836853-Ataxia Telangiectasia,
pubmed-meshheading:7836853-Base Sequence,
pubmed-meshheading:7836853-Child,
pubmed-meshheading:7836853-Chromosome Mapping,
pubmed-meshheading:7836853-Chromosomes, Human, Pair 11,
pubmed-meshheading:7836853-Consanguinity,
pubmed-meshheading:7836853-Family Health,
pubmed-meshheading:7836853-Female,
pubmed-meshheading:7836853-Genetic Linkage,
pubmed-meshheading:7836853-Genotype,
pubmed-meshheading:7836853-Haplotypes,
pubmed-meshheading:7836853-Humans,
pubmed-meshheading:7836853-Male,
pubmed-meshheading:7836853-Molecular Sequence Data,
pubmed-meshheading:7836853-Mutation,
pubmed-meshheading:7836853-Pedigree,
pubmed-meshheading:7836853-Phenotype
|
|
pubmed:year |
1994
|
|
pubmed:articleTitle |
Genetic haplotyping of ataxia-telangiectasia families localizes the major gene to an approximately 850 kb region on chromosome 11q23.1.
|
|
pubmed:affiliation |
Department of Pathology, UCLA School of Medicine.
|
|
pubmed:publicationType |
Journal Article
|
