Associated Papers
SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein.
Nanetti L et al.
Orphanet Journal of Rare Diseases, 2013
Large genomic mutations within the ATM gene detected by MLPA, including a duplication of 41 kb from exon 4 to 20.
Cavalieri S et al.
Annals of Human Genetics, 2008
ATM mutations in Italian families with ataxia telangiectasia include two distinct large genomic deletions.
Cavalieri S et al.
Human Mutation, 2006
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