Dominant mutations in ITPR3 cause Charcot‐Marie‐Tooth disease

OBJECTIVE: ITPR3, encoding inositol 1,4,5‐trisphosphate receptor type 3, was previously reported as a potential candidate disease gene for Charcot‐Marie‐Tooth neuropathy. Here, we present genetic and functional evidence that ITPR3 is a Charcot‐Marie‐Tooth disease gene. METHODS: Whole‐exome sequencin...

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Bibliografiske detaljer
Udgivet i:Ann Clin Transl Neurol
Main Authors: Rönkkö, Julius, Molchanova, Svetlana, Revah‐Politi, Anya, Pereira, Elaine M., Auranen, Mari, Toppila, Jussi, Kvist, Jouni, Ludwig, Anastasia, Neumann, Julika, Bultynck, Geert, Humblet‐Baron, Stéphanie, Liston, Adrian, Paetau, Anders, Rivera, Claudio, Harms, Matthew B., Tyynismaa, Henna, Ylikallio, Emil
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2020
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Research Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7545616/
https://ncbi.nlm.nih.gov/pubmed/32949214
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.51190
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