Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy

C. Folland, R. Johnsen, A. Botero Gomez, D. Trajanoski, M. Davis, U. Moore, V. Straub, R. Barresi, M. Guglieri, H. Hayhurst, A. Schaefer, N. Laing, P. Lamont, G. Ravenscroft

UWA Centre for Medical Research (affiliated with the Harry Perkins Institute of Medical Research)

Research output: Contribution to journal › Abstract/Meeting Abstract › peer-review

1 Article

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2022
Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy
Folland, C., Johnsen, R., Gomez, A. B., Trajanoski, D., Davis, M. R., Moore, U., Straub, V., Barresi, R., Guglieri, M., Hayhurst, H., Schaefer, A. M., Laing, N. G., Lamont, P. J. & Ravenscroft, G., Dec 2022, In: Neuropathology and Applied Neurobiology. 48, 7, 10 p., e12846.
Research output: Contribution to journal › Article › peer-review
6 Citations (Scopus)

Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy

Research output

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Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy