TY  - GEN
AU  - Li,Chunmei
AU  - Kosmorsky,Gregory
AU  - Zhang,Kang
AU  - Katz,Bradley J
AU  - Ge,Jian
AU  - Traboulsi,Elias I
TI  - Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1 mutation
SN  - 1552-4825
PY  - 2008///0227
KW  - Adult
KW  - Amino Acid Substitution
KW  - genetics
KW  - Arginine
KW  - Child
KW  - Female
KW  - GTP Phosphohydrolases
KW  - Genetic Linkage
KW  - Haplotypes
KW  - Hearing Loss, Sensorineural
KW  - Hearing Tests
KW  - Histidine
KW  - Humans
KW  - Male
KW  - Middle Aged
KW  - Mutation
KW  - Optic Atrophy, Autosomal Dominant
N1  - Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S
UR  - https://doi.org/10.1002/ajmg.a.30794
ER  -