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Mutation spectrum and splicing variants in the OPA1 gene

2001379 citationsJournal Article

Authors

Cécile Delettre

Jean‐Michel Griffoin · Inserm

Josseline Kaplan · Inserm

Hélène Dollfus · Hôpital d'Hautepierre

Birgit Lorenz · University of Regensburg

Laurence Faivre · Hôpital d'Enfants

Guy Lenaers · Laboratoire de Biologie Cellulaire et Moléculaire du Contrôle de la Prolifération

Topics & Keywords

Mitochondrial Function and Pathology ATP Synthase and ATPases Research Ion channel regulation and function

Publication Details

Published in: Human Genetics

Volume 109, Issue 6, pp. 584-591

DOI: 10.1007/s00439-001-0633-y

Field-Weighted Citation Impact: 3.69

Mutation spectrum and splicing variants in the OPA1 gene | Researchclopedia

Pascale Belenguer · Centre National de la Recherche Scientifique

Christian Hamel · Centre de Biologie Structurale