VIICTR Profiles
ORIT
Pediatrics CRA
Home
About
Overview
Sharing Data
ORCID
Help
History (1)
Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency.
See All Pages
Find People
Find Everything
Login
to edit your profile (add a photo, awards, links to other websites, etc.)
Edit My Profile
My Person List (
0
)
Return to Top
Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency.
Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency. Am J Hum Genet. 2020 01 02; 106(1):92-101.
View in:
PubMed
subject areas
Alleles
Electron Transport Complex I
Female
Fibroblasts
Humans
Infant
Leigh Disease
Male
Mitochondrial Diseases
Mitochondrial Proteins
Mutation
NADH Dehydrogenase
Pedigree
Phenotype
authors with profiles
PENELOPE BONNEN