A single c.1715G>C calpain 3 gene variant causes...

Human Mutation 2020 / 06

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

Vissing, John, Dahlqvist, Julia R., Roudaut, Carinne, Poupiot, Jerome, Richard, Isabelle, Duno, Morten, Krag, Thomas
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Journal:
Human Mutation
DOI:
10.1002/humu.24066
Date:
June, 2020
File:
PDF, 383 KB
2020
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