Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6.
Hum Mol Genet
; 25(18): 4062-4079, 2016 09 15.
Article
in En
| MEDLINE
| ID: mdl-27466185
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Mitochondrial Diseases
/
Mitochondrial Proteins
/
Electron Transport Complex I
/
Fanconi Syndrome
/
Mitochondria
Limits:
Adult
/
Female
/
Humans
/
Male
/
Middle aged
Country/Region as subject:
America do norte
Language:
En
Journal:
Hum Mol Genet
Journal subject:
BIOLOGIA MOLECULAR
/
GENETICA MEDICA
Year:
2016
Document type:
Article
Affiliation country:
Country of publication: