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Bi‐allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis‐like disease

Crossref DOI link: https://doi.org/10.15252/emmm.202013376

Published Online: 2021-05-03

Published Print: 2021-05-07

Update policy: https://doi.org/10.1002/crossmark_policy

Authors

Sofou, Kalliopi

Meier, Kolja

Sanderson, Leslie E

Kaminski, Debora

Montoliu‐Gaya, Laia

Samuelsson, Emma

Blomqvist, Maria

Agholme, Lotta

Gärtner, Jutta

Mühlhausen, Chris

Darin, Niklas

Barakat, Tahsin Stefan https://orcid.org/0000-0003-1231-1562
Schlotawa, Lars

van Ham, Tjakko https://orcid.org/0000-0002-2175-8713
Asin Cayuela, Jorge

Sterky, Fredrik H https://orcid.org/0000-0001-8881-0523
Funding

Funding for this research was provided by:

Vetenskapsrådet (2017‐03331)

ZonMw (91617021)

H2020 Marie Skłodowska-Curie Actions (707404)

Deutsche Forschungsgemeinschaft (Ga354/14‐1)

Sahlgrenska Universitetssjukhuset (ALFGBG‐797811)

Erasmus Universiteit Rotterdam

Brain and Behavior Research Foundation

Erasmus Medisch Centrum
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Publication History

Received: 2020-09-01

Accepted: 2021-03-19

Published: 2021-05-03