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A single c.1715G>C calpain 3 gene variant causes dominant calpainopathy with loss of calpain 3 expression and activity

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https://hal-univ-evry.archives-ouvertes.fr/hal-03335781
Contributor : Isabelle Richard <>
Submitted on : Monday, September 6, 2021 - 2:50:32 PM
Last modification on : Wednesday, September 8, 2021 - 3:32:49 AM

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John Vissing, Julia Dahlqvist, Carinne Roudaut, Jerome Poupiot, Isabelle Richard, et al.. A single c.1715G>C calpain 3 gene variant causes dominant calpainopathy with loss of calpain 3 expression and activity. Human Mutation, Wiley, 2020, 41 (9), pp.1507-1513. ⟨10.1002/humu.24066⟩. ⟨hal-03335781⟩

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