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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 11, 2024. (Total: 234291Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Anemia and PUS1[original query]
Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations.
Neurogenetics 2015 Nov .
Cao Michelangelo, Donà Marta, Valentino Lucia, Semplicini Claudio, Maresca Alessandra, Cassina Matteo, Torraco Alessandra, Galletta Eva, Manfioli Valeria, Sorarù Gianni, Carelli Valerio, Stramare Roberto, Bertini Enrico, Carozzo Rosalba, Salviati Leonardo, Pegoraro Ele
Sideroblastic anemia associated with multisystem mitochondrial disorders.
Pediatric blood & cancer 2018 12 66 (4): e27591.
Tesarova Marketa, Vondrackova Alzbeta, Stufkova Hana, Veprekova Lenka, Stranecky Viktor, Berankova Kamila, Hansikova Hana, Magner Martin, Galoova Natalia, Honzik Tomas, Vodickova Elena, Stary Jan, Zeman Ji
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.
Pediatric blood & cancer 2019 8 66 (11): e27945.
Finsterer Jos
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