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

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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

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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

Sponsorship

MRC (MR/N027302/2)

Wellcome Trust (212219/Z/18/Z)

MRC (MC_UU_00015/8)

Embargo Lift Date

2020-11-30

Identifiers

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

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