Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency.

Salviati L, Trevisson E, Rodriguez Hernandez MA, Casarin A, Pertegato V, Doimo M, Cassina M, Agosto C, Desbats MA, Sartori G, Sacconi S, Memo L, Zuffardi O, Artuch R, Quinzii C, Dimauro S, Hirano M, Santos-Ocaña C, Navas P

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DOI: 10.1136/jmedgenet-2011-100394
Published: 2012 Mar
Container: Journal of medical genetics
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1136/jmedgenet-2011-100394,
  title = {Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency.},
  author = {Salviati L and Trevisson E and Rodriguez Hernandez MA and Casarin A and Pertegato V and Doimo M and Cassina M and Agosto C and Desbats MA and Sartori G and Sacconi S and Memo L and Zuffardi O and Artuch R and Quinzii C and Dimauro S and Hirano M and Santos-Ocaña C and Navas P},
  year = {2012},
  journal = {Journal of medical genetics},
  doi = {10.1136/jmedgenet-2011-100394},
  url = {https://doi.org/10.1136/jmedgenet-2011-100394}
}

RIS

TY  - JOUR
TI  - Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency.
AU  - Salviati L
AU  - Trevisson E
AU  - Rodriguez Hernandez MA
AU  - Casarin A
AU  - Pertegato V
AU  - Doimo M
AU  - Cassina M
AU  - Agosto C
AU  - Desbats MA
AU  - Sartori G
AU  - Sacconi S
AU  - Memo L
AU  - Zuffardi O
AU  - Artuch R
AU  - Quinzii C
AU  - Dimauro S
AU  - Hirano M
AU  - Santos-Ocaña C
AU  - Navas P
PY  - 2012
JO  - Journal of medical genetics
DO  - 10.1136/jmedgenet-2011-100394
UR  - https://doi.org/10.1136/jmedgenet-2011-100394
ER  -

APA

L, S., E, T., MA, R. H., A, C., V, P., M, D., M, C., C, A., MA, D., G, S., S, S., L, M., O, Z., R, A., C, Q., S, D., M, H., C, S., & P, N. (2012). Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency.. Journal of medical genetics. https://doi.org/10.1136/jmedgenet-2011-100394

Source records

pubmed · retrieved 2026-09-26T12:29:45.284Z