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Case Reports

. 2010 Oct;257(10):1738-40.

doi: 10.1007/s00415-010-5583-7. Epub 2010 May 18.

Homozygosity for c 6325T>G transition in the ATM gene causes an atypical, late-onset variant form of ataxia-telangiectasia

Gabriella Silvestri, Marcella Masciullo, Maria Piane, Camilla Savio, Anna Modoni, Massimo Santoro, Luciana Chessa

PMID: 20480175
DOI: 10.1007/s00415-010-5583-7

Case Reports

Homozygosity for c 6325T>G transition in the ATM gene causes an atypical, late-onset variant form of ataxia-telangiectasia

Gabriella Silvestri et al. J Neurol. 2010 Oct.

. 2010 Oct;257(10):1738-40.

doi: 10.1007/s00415-010-5583-7. Epub 2010 May 18.

Authors

Gabriella Silvestri, Marcella Masciullo, Maria Piane, Camilla Savio, Anna Modoni, Massimo Santoro, Luciana Chessa

PMID: 20480175
DOI: 10.1007/s00415-010-5583-7

No abstract available

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References

1. Hum Mutat. 2009 Jan;30(1):12-21 - PubMed
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1. Mol Genet Metab. 2000 Jun;70(2):122-33 - PubMed

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