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A De Novo Frameshift Mutation in RPL5 with Classical Phenotype Abnormalities and Worsening Anemia Diagnosed in a Young Adult-A Case Report and Review of the Literature.
Dorenkamp, Moritz; Porret, Naomi; Diepold, Miriam; Rovó, Alicia.
Affiliation
  • Dorenkamp M; Department of Hematology and Central Hematology Laboratory, Bern University Hospital (INSELSPITAL), 3010 Bern, Switzerland.
  • Porret N; Department of Hematology and Central Hematology Laboratory, Bern University Hospital (INSELSPITAL), 3010 Bern, Switzerland.
  • Diepold M; Division of Pediatric Hematology & Oncology, Department of Pediatrics, Bern University Hospital (INSELSPITAL), 3010 Bern, Switzerland.
  • Rovó A; Department of Hematology and Central Hematology Laboratory, Bern University Hospital (INSELSPITAL), 3010 Bern, Switzerland.
Medicina (Kaunas) ; 59(11)2023 Nov 05.
Article in En | MEDLINE | ID: mdl-38004002
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Frameshift Mutation / Anemia, Diamond-Blackfan Limits: Adolescent / Adult / Child / Female / Humans / Newborn Language: En Journal: Medicina (Kaunas) Journal subject: MEDICINA Year: 2023 Document type: Article Affiliation country:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Frameshift Mutation / Anemia, Diamond-Blackfan Limits: Adolescent / Adult / Child / Female / Humans / Newborn Language: En Journal: Medicina (Kaunas) Journal subject: MEDICINA Year: 2023 Document type: Article Affiliation country: