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Effects of germline VHL deficiency on growth, metabolism, and mitochondria

Abstract:

Mutations in VHL, which encodes von Hippel–Lindau tumor suppressor (VHL), are associated with divergent diseases. We describe a patient with marked erythrocytosis and prominent mitochondrial alterations associated with a severe germline VHL deficiency due to homozygosity for a novel synonymous mutation (c.222C→A, p.V74V). The condition is characterized by early systemic onset and differs from Chuvash polycythemia (c.598C→T) in that it is associated with a strongly reduced growth rate, persist...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1056/nejmoa1907362

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Role:
Author
ORCID:
0000-0003-3849-8548
Publisher:
Massachusetts Medical Society
Journal:
New England Journal of Medicine More from this journal
Volume:
382
Issue:
9
Pages:
835-844
Publication date:
2020-02-27
Acceptance date:
2019-11-06
DOI:
EISSN:
1533-4406
ISSN:
0028-4793
Language:
English
Keywords:
Pubs id:
1090568
Local pid:
pubs:1090568
Deposit date:
2020-03-02

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