Compound heterozygous inheritance of two novel COQ2 variants results in familial coenzyme Q deficiency

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1750-1172

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Compound heterozygous inheritance of two novel COQ2 variants results in familial coenzyme Q deficiency ; volume:15 ; number:1 ; day:13 ; month:11 ; year:2020 ; pages:1-12 ; date:12.2020
Orphanet journal of rare diseases ; 15, Heft 1 (13.11.2020), 1-12, 12.2020

Creator: Abdelhakim, Aliaa H.
Dharmadhikari, Avinash V.
Ragi, Sara D.
Carvalho, Jose Ronaldo Lima de
Xu, Christine L.
Thomas, Amanda L.
Buchovecky, Christie M.
Mansukhani, Mahesh M.
Naini, Ali B.
Liao, Jun
Jobanputra, Vaidehi
Maumenee, Irene H.
Tsang, Stephen H.

Contributor: SpringerLink (Online service)

DOI: 10.1186/s13023-020-01600-8

URN: urn:nbn:de:101:1-2020122420345499506246

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 15.08.2025, 7:33 AM CEST

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Associated

Abdelhakim, Aliaa H.
Dharmadhikari, Avinash V.
Ragi, Sara D.
Carvalho, Jose Ronaldo Lima de
Xu, Christine L.
Thomas, Amanda L.
Buchovecky, Christie M.
Mansukhani, Mahesh M.
Naini, Ali B.
Liao, Jun
Jobanputra, Vaidehi
Maumenee, Irene H.
Tsang, Stephen H.
SpringerLink (Online service)

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Compound heterozygous inheritance of two novel COQ2 variants results in familial coenzyme Q deficiency

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