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PUS1 gene
Known as:
PSEUDOURIDINE SYNTHASE 1
, pseudouridylate synthase 1
, PUS1
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National Institutes of Health
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Related topics
Related topics
2 relations
PUS3 gene
PUSL1 gene
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Comment on: Sideroblastic anemia associated with multisystem mitochondrial disorders: The phenotypic spectrum of PUS1 and COX10 variants and mtDNA deletions needs to be prospectively assessed
J. Finsterer
Pediatric Blood & Cancer
2019
Corpus ID: 199506351
We read with interest the article by Tesarova et al about eight children with sideroblastic anemia due to mutations in PUS1 (n…
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2016
2016
Erratum to: Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations
Michelangelo Cao
,
M. Donà
,
+13 authors
E. Pegoraro
Neurogenetics
2016
Corpus ID: 254111343
2015
2015
Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations
Michelangelo Cao
,
M. Donà
,
+13 authors
E. Pegoraro
Neurogenetics
2015
Corpus ID: 254106596
Myopathy-lactic acidosis-sideroblastic anemia (MLASA) syndrome is a rare autosomal recessive disease. We studied a 43-year-old…
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