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

Risultato della ricerca: Contributo in rivista › Articolo

7 Citazioni (Scopus)

Keywords

@article{144f224f1039428d981bfbd728e2ae6a,

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

keywords = "ATM, ATM",

author = "Gabriella Silvestri and Marcella Masciullo and Maria Piane and Camilla Savio and Anna Modoni and Massimo Santoro and Luciana Chessa",

year = "2010",

doi = "10.1007/s00415-010-5583-7",

language = "English",

pages = "1738--1740",

journal = "Journal of Neurology",

issn = "0340-5354",

publisher = "Springer Science and Business Media Deutschland GmbH",

}

TY - JOUR

T1 - Homozygosity for c 6325T>G transition in the ATM gene causes an atypical, late-onset variant form of ataxia-telangiectasia.

AU - Silvestri, Gabriella

AU - Masciullo, Marcella

AU - Piane, Maria

AU - Savio, Camilla

AU - Modoni, Anna

AU - Santoro, Massimo

AU - Chessa, Luciana

PY - 2010

Y1 - 2010

KW - ATM

UR - http://hdl.handle.net/10807/15273

U2 - 10.1007/s00415-010-5583-7

DO - 10.1007/s00415-010-5583-7

M3 - Article

SN - 0340-5354

SP - 1738

EP - 1740

JO - Journal of Neurology

JF - Journal of Neurology

ER -