The in cis T251I and P587L POLG1 base changes: description of a new family and literature review.
Scuderi, Carmela
The in cis T251I and P587L POLG1 base changes: description of a new family and literature review. [electronic resource] - Neuromuscular disorders : NMD Apr 2015 - 333-9 p. digital
Publication Type: Case Reports; Journal Article; Review
1873-2364
10.1016/j.nmd.2015.01.004 doi
Adolescent
Adult
Child
DNA Polymerase gamma
DNA-Directed DNA Polymerase--genetics
Family
Female
Humans
Intellectual Disability--genetics
Male
Middle Aged
Mitochondrial Diseases--genetics
Point Mutation
The in cis T251I and P587L POLG1 base changes: description of a new family and literature review. [electronic resource] - Neuromuscular disorders : NMD Apr 2015 - 333-9 p. digital
Publication Type: Case Reports; Journal Article; Review
1873-2364
10.1016/j.nmd.2015.01.004 doi
Adolescent
Adult
Child
DNA Polymerase gamma
DNA-Directed DNA Polymerase--genetics
Family
Female
Humans
Intellectual Disability--genetics
Male
Middle Aged
Mitochondrial Diseases--genetics
Point Mutation