Compound heterozygous inheritance of two novel COQ2 variants results in familial coenzyme Q deficiency
- Standort
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Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
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1750-1172
- Umfang
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Online-Ressource
- Sprache
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Englisch
- Anmerkungen
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online resource.
- Erschienen in
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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
- Urheber
-
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.
- Beteiligte Personen und Organisationen
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SpringerLink (Online service)
- DOI
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10.1186/s13023-020-01600-8
- URN
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urn:nbn:de:101:1-2020122420345499506246
- Rechteinformation
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
-
15.08.2025, 07:33 MESZ
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Beteiligte
- 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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