Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease.

Oláhová, Monika; Ceccatelli Berti, Camilla; Collier, Jack J; Alston, Charlotte L; Jameson, Elisabeth; Jones, Simon A; Edwards, Noel; He, Langping; Chinnery, Patrick; Horvath, Rita; Goffrini, Paola; Taylor, Robert W; Sayer, John A

View / Open Files

Accepted version (PDF, 1Mb)

Authors

Oláhová, Monika

Ceccatelli Berti, Camilla

Collier, Jack J

Alston, Charlotte L

Jameson, Elisabeth

Jones, Simon A

Edwards, Noel

Publication Date

2019-11

Journal Title

Human molecular genetics

ISSN

0964-6906

Volume

Issue

Pages

3766-3776

Language

eng

Type

Article

This Version

Physical Medium

Metadata

Show full item record

Citation

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