TY  - GEN
AU  - Deschauer,Marcus
AU  - Kiefer,Reinhard
AU  - Blakely,Emma L
AU  - He,Langping
AU  - Zierz,Stephan
AU  - Turnbull,Douglass M
AU  - Taylor,Robert W
TI  - A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia
SN  - 0960-8966
PY  - 2003///1007
KW  - Adult
KW  - Aged
KW  - Base Sequence
KW  - Blotting, Southern
KW  - methods
KW  - DNA Helicases
KW  - DNA Mutational Analysis
KW  - DNA Primase
KW  - genetics
KW  - DNA-Binding Proteins
KW  - Family Health
KW  - Female
KW  - Heterozygote
KW  - Humans
KW  - Lysine
KW  - Male
KW  - Middle Aged
KW  - Mitochondrial Proteins
KW  - Molecular Biology
KW  - Muscles
KW  - metabolism
KW  - Mutation
KW  - Ophthalmoplegia, Chronic Progressive External
KW  - etiology
KW  - Pedigree
KW  - Polymorphism, Restriction Fragment Length
KW  - Reverse Transcriptase Polymerase Chain Reaction
KW  - Sequence Alignment
KW  - Threonine
KW  - Viral Proteins
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/s0960-8966(03)00071-3
ER  -