EXOME SEQUENCING REVEALS A NEW CLN5 MUTATION IN AN ADULT FORM OF CEREBELLAR ATAXIA
| Title: | EXOME SEQUENCING REVEALS A NEW CLN5 MUTATION IN AN ADULT FORM OF CEREBELLAR ATAXIA |
|---|---|
| Authors: | MANCINI, CECILIA; GIORGIO, ELISA; CALCIA, ALESSANDRO; DI GREGORIO, ELEONORA; CAVALIERI, Simona; POZZI, ELISA; BRUSSINO, Alessandro; BRUSCO, Alfredo; S. Nassani2; Y. Guo3; X. Liu4; Y. Xie4; F. Wang3; L. Tian3; W. Chen4; B. Nmezi6; Q. S. Padiath6; H. Jiang4; 7; A. Kyttala8; N. R. Pizio2; H. Hakonarson3; 9, 10 |
| Contributors: | C. Mancini1; S. Nassani2; Y. Guo3; E. Giorgio1; A. Calcia1; X. Liu4; E. Di Gregorio5; S. Cavalieri5; E. Pozzi1; A. Brussino1; Y. Xie4; F. Wang3; L. Tian3; W. Chen4; B. Nmezi6; Q. S. Padiath6; H. Jiang4; 7; A. Kyttala8; N. R. Pizio2; H. Hakonarson3; 9; 10; A. Brusco1 |
| Publisher Information: | ESHG; AUT; Vienna |
| Publication Year: | 2014 |
| Collection: | Università degli studi di Torino: AperTo (Archivio Istituzionale ad Accesso Aperto) |
| Document Type: | conference object |
| Language: | English |
| Relation: | ispartofbook:Abstracts ESHG 2014; ESHG 2014; firstpage:56; lastpage:57; numberofpages:1; http://hdl.handle.net/2318/153106 |
| Availability: | http://hdl.handle.net/2318/153106 |
| Accession Number: | edsbas.93B8EB52 |
| Database: | BASE |