TY  - GEN
AU  - Scuderi,Carmela
AU  - Borgione,Eugenia
AU  - Castello,Filippa
AU  - Lo Giudice,Mariangela
AU  - Santa Paola,Sandro
AU  - Giambirtone,Mariaconcetta
AU  - Di Blasi,Francesco Domenico
AU  - Elia,Maurizio
AU  - Amato,Carmelo
AU  - Città,Santina
AU  - Gagliano,Catalda
AU  - Barbarino,Giuliano
AU  - Vitello,Girolamo Aurelio
AU  - Musumeci,Sebastiano Antonino
TI  - The in cis T251I and P587L POLG1 base changes: description of a new family and literature review
SN  - 1873-2364
PY  - 2015///1207
KW  - Adolescent
KW  - Adult
KW  - Child
KW  - DNA Polymerase gamma
KW  - DNA-Directed DNA Polymerase
KW  - genetics
KW  - Family
KW  - Female
KW  - Humans
KW  - Intellectual Disability
KW  - Male
KW  - Middle Aged
KW  - Mitochondrial Diseases
KW  - Point Mutation
N1  - Publication Type: Case Reports; Journal Article; Review
UR  - https://doi.org/10.1016/j.nmd.2015.01.004
ER  -