Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder
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Title
Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder
Authors
Keywords
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Journal
HUMAN MOLECULAR GENETICS
Volume -, Issue -, Pages -
Publisher
Oxford University Press (OUP)
Online
2021-12-31
DOI
10.1093/hmg/ddab368
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- Hrr25/CK1δ-directed release of Ltv1 from pre-40S ribosomes is necessary for ribosome assembly and cell growth
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- (2014) J. R. Merwin et al. GENETICS
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