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

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

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Authors

Oláhová, Monika

Berti, Camilla Ceccatelli

Collier, Jack J

Alston, Charlotte L

Jameson, Elisabeth

Jones, Simon A

Edwards, Noel

Publication Date

2019-08-22

Journal Title

Human Molecular Genetics

ISSN

0964-6906

Language

eng

Type

Article

This Version

Physical Medium

Print-Electronic

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Citation

Oláhová, M., Berti, C. 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 https://doi.org/10.1093/hmg/ddz202

Sponsorship

MRC (MR/N027302/2)

Embargo Lift Date

2020-08-22

Identifiers

External DOI: https://doi.org/10.1093/hmg/ddz202

This record's URL: https://www.repository.cam.ac.uk/handle/1810/296411