Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease.
Authors
Oláhová, Monika
Ceccatelli Berti, Camilla
Collier, Jack J
Jameson, Elisabeth
Jones, Simon A
Edwards, Noel
He, Langping
Goffrini, Paola
Taylor, Robert W
Sayer, John A
Publication Date
2019-11Journal Title
Human molecular genetics
ISSN
0964-6906
Volume
28
Issue
22
Pages
3766-3776
Language
eng
Type
Article
This Version
AM
Physical Medium
Print
Metadata
Show full item recordCitation
Oláhová, M., Ceccatelli Berti, C., Collier, J. J., Alston, C. L., Jameson, E., Jones, S. A., Edwards, N., et al. (2019). Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease.. Human molecular genetics, 28 (22), 3766-3776. https://doi.org/10.1093/hmg/ddz202
Keywords
Muscle, Skeletal, Fibroblasts, Humans, Cholestasis, Fetal Growth Retardation, Metabolism, Inborn Errors, Acidosis, Lactic, Hemosiderosis, Mitochondrial Diseases, Electron Transport Complex III, Amino Acid Sequence, Phenotype, Mutation, Adult, Infant, Female, Male, Renal Aminoacidurias, ATPases Associated with Diverse Cellular Activities
Sponsorship
MRC (MR/N027302/2)
Wellcome Trust (212219/Z/18/Z)
MRC (MC_UU_00015/8)
Identifiers
External DOI: https://doi.org/10.1093/hmg/ddz202
This record's URL: https://www.repository.cam.ac.uk/handle/1810/296411
Rights
All rights reserved