Dominant mutations in ITPR3 cause Charcot-Marie-Tooth disease.

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Authors
  Rönkkö, Julius
  Molchanova, Svetlana
Revah-Politi, Anya
Pereira, Elaine M
Auranen, Mari
Toppila, Jussi
Kvist, Jouni
Publication Date
2020-10
Journal Title
Annals of clinical and translational neurology
ISSN
2328-9503
Volume
7
Issue
10
Pages
1962-1972
Language
eng
Type
Article
This Version
VoR
Physical Medium
Print-Electronic
Metadata
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Citation
Rönkkö, J., Molchanova, S., Revah-Politi, A., Pereira, E. M., Auranen, M., Toppila, J., Kvist, J., et al. (2020). Dominant mutations in ITPR3 cause Charcot-Marie-Tooth disease.. Annals of clinical and translational neurology, 7 (10), 1962-1972. https://doi.org/10.1002/acn3.51190
Keywords
Humans, Arthrogryposis, Charcot-Marie-Tooth Disease, Pedigree, Heterozygote, Genes, Recessive, Phenotype, Mutation, Adult, Aged, Middle Aged, Inositol 1,4,5-Trisphosphate Receptors, Young Adult
Identifiers
External DOI: https://doi.org/10.1002/acn3.51190
This record's URL: https://www.repository.cam.ac.uk/handle/1810/312889

Rights
Attribution 4.0 International
Licence URL: https://creativecommons.org/licenses/by/4.0/

Attribution 4.0 International
Except where otherwise noted, this item's licence is described as Attribution 4.0 International