DHPLC Screening of ATM Gene in Italian Patients Affected by Ataxia-Telangiectasia: Fourteen Novel ATM Mutations

The gene for ataxia-telangiectasia (A-T:MIM:#208900), ATM, spans about 150~kb of genomic DNA and is composed of 62 coding exons. ATM mutations are found along the entire coding sequence of the gene, without evidence of mutational hot spots. Using DNA as the starting material, we used denaturing high...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: Magliozzi, Monia, Piane, Maria, Torrente, Isabella, Sinibaldi, Lorenzo, Rizzo, Giovanni, Savio, Camilla, Lulli, Patrizia, De Luca, Alessandro, Dallapiccola, Bruno, Chessa, Luciana
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: IOS Press 2006
Θέματα:
Regular Article
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3862285/
https://ncbi.nlm.nih.gov/pubmed/17124347
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2006/740493
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