Novel POLG mutations and variable clinical phenotypes in 13 Italian patients-Reference-Cited by-同舟云学术

Novel POLG mutations and variable clinical phenotypes in 13 Italian patients

Published:2017-01-27 Issue:4 Volume:38 Page:563-570
ISSN:1590-1874
Container-title:Neurological Sciences
language:en
Short-container-title:Neurol Sci

Author:

Da Pozzo Paola,Cardaioli Elena,Rubegni Anna,Gallus Gian Nicola,Malandrini Alessandro,Rufa Alessandra,Battisti Carla,Carluccio Maria Alessandra,Rocchi Raffaele,Giannini Fabio,Bianchi Amedeo,Mancuso Michelangelo,Siciliano Gabriele,Dotti Maria Teresa,Federico Antonio

Funder

Regione Toscana and Ministry of Public Health

Publisher

Springer Science and Business Media LLC

Subject

Psychiatry and Mental health,Clinical Neurology,Dermatology,General Medicine

Link

http://link.springer.com/content/pdf/10.1007/s10072-016-2734-3.pdf

Reference25 articles.

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2. Kaguni LS (2004) DNA polymerase gamma, the mitochondrial replicase. Annu Rev Biochem 73:293–320. doi: 10.1146/annurev.biochem.72.121801.161455

3. Wong LJ, Naviaux RK, Brunetti-Pierri N, Zhang Q, Schmitt ES, Truong C et al (2008) Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. Hum Mutat 29:E150–E172. doi: 10.1002/humu.20824