Juvenile mucopolysaccharidosis plus disease caused by a missense mutation in <i>VPS33A</i>-Reference-Cited by-同舟云学术

Juvenile mucopolysaccharidosis plus disease caused by a missense mutation in VPS33A

Published:2022-10-08 Issue:12 Volume:43 Page:2265-2278
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Pavlova Elena V.¹^ORCID,Lev Dorit²³⁴,Michelson Marina²,Yosovich Keren²,Michaeli Hila Gur²,Bright Nicholas A.⁵,Manna Paul T.⁵⁶,Dickson Veronica Kane⁵,Tylee Karen L.⁷,Church Heather J.⁷,Luzio J. Paul⁵,Cox Timothy M.¹^ORCID

Affiliation:

1. Department of Medicine University of Cambridge Cambridge UK

2. Wolfson Medical Centre Institute of Medical Genetics Holon Israel

3. The Rina Mor Institute of Medical Genetics Holon Israel

4. The Sackler School of Medicine Tel Aviv University Tel Aviv Israel

5. Department of Clinical Biochemistry, Cambridge Institute for Medical Research, The Keith Peters Building University of Cambridge Cambridge UK

6. Department of Neuroscience and Physiology University of Gothenburg Gothenburg Sweden

7. Willink Biochemical Genetics Unit, Genomic Diagnostics Laboratory, Manchester Centre for Genomic Medicine Central Manchester University Hospitals NHS Foundation Trust St Mary's Hospital Manchester UK

Publisher

Hindawi Limited

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24479

Reference56 articles.

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5. CORVET and HOPS tethering complexes – coordinators of endosome and lysosome fusion

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