TY  - GEN
AU  - Maniura-Weber,Katharina
AU  - Taylor,Robert W
AU  - Johnson,Margaret A
AU  - Chrzanowska-Lightowlers,Zofia
AU  - Morris,Andrew A M
AU  - Charlton,Charles P J
AU  - Turnbull,Douglass M
AU  - Bindoff,Laurence A
TI  - A novel point mutation in the mitochondrial tRNA(Trp) gene produces a neurogastrointestinal syndrome
SN  - 1018-4813
PY  - 2004///1207
KW  - Adolescent
KW  - Base Sequence
KW  - Chromosome Segregation
KW  - DNA, Mitochondrial
KW  - chemistry
KW  - Electron Transport Complex IV
KW  - metabolism
KW  - Female
KW  - Gastrointestinal Diseases
KW  - genetics
KW  - Hearing Loss, Sensorineural
KW  - Humans
KW  - Mitochondrial Encephalomyopathies
KW  - Molecular Sequence Data
KW  - Muscle Fibers, Skeletal
KW  - enzymology
KW  - Ophthalmoplegia
KW  - Point Mutation
KW  - RNA, Transfer, Trp
KW  - Syndrome
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1038/sj.ejhg.5201185
ER  -