Mutations associated with variant phenotypes in ataxia-telangiectasia.

We have identified 14 families with ataxia-telangiectasia (A-T) in which mutation of the ATM gene is associated with a less severe clinical and cellular phenotype (approximately 10%-15% of A-T families identified in the United Kingdom). In 10 of these families, all the homozygotes have a 137-bp inse...

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Hauptverfasser: McConville, C. M., Stankovic, T., Byrd, P. J., McGuire, G. M., Yao, Q. Y., Lennox, G. G., Taylor, M. R.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 1996
Schlagworte:
Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1914715/
https://ncbi.nlm.nih.gov/pubmed/8755918
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