Association of Ataxia Telangiectasia Mutated (ATM) Gene Mutation/Deletion with Rhabdomyosarcoma – retraction
✍ Scribed by Peilin Zhang; Kunjan S Bhakta; Pier Lorenzo Puri; Robert O Newbury; James R Feramisco; Jean Y Wang
- Book ID
- 119901880
- Publisher
- BioMed Central
- Year
- 2003
- Tongue
- English
- Weight
- 197 KB
- Volume
- 2
- Category
- Article
- ISSN
- 1476-4598
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The ataxia-telangiectasia mutated (ATM) gene, which is mutated in the autosomal recessive disorder ataxia-telangiectasia (AT), was isolated in 1995 by positional cloning. Although in vitro cell fusion studies had suggested that AT was genetically heterogeneous, all AT patients studied to date have b
In patients affected by Ataxia-Telangiectasia (A-T), mutations in the ATM gene lead to lossof-function alleles. Nonsense, splice-site variants, small insertions or deletions (frameshifts) and missense are the most commonly found mutations. Large genomic deletions (LGDs) are rare (~1%) but can lead t