Article
ATM mutations in Italian families with ataxia telangiectasia include two distinct large genomic deletions.
Human mutation - 1 Oct 2006
Cavalieri Simona, Funaro Ada, Porcedda Paola, Turinetto Valentina, Migone Nicola, Gatti Richard A, Brusco Alfredo
Abstract excerpt
In patients affected by Ataxia-Telangiectasia (A-T), mutations in the ATM gene lead to loss-of-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 (approximately 1%) but can lead to the same phenotype. In compound heterozygotes, deletions are not detected by most screening...
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