Ataxia-telangiectasia: mutations in ATM cDNA detected by protein-truncation screening.

We have examined the distal half of the ataxia-telangiectasia (A-T) gene transcript for truncation mutations in 48 A-T affecteds. We found 21 mutations; 4 of the mutations were seen in more than one individual. Genotyping of the individuals sharing mutations, by using nearby microsatellite markers,...

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Bibliografische gegevens
Hoofdauteurs: Telatar, M., Wang, Z., Udar, N., Liang, T., Bernatowska-Matuszkiewicz, E., Lavin, M., Shiloh, Y., Concannon, P., Good, R. A., Gatti, R. A.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 1996
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Research Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1915099/
https://ncbi.nlm.nih.gov/pubmed/8659541
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