An atypical form of 60S ribosomal subunit in Diamond-Blackfan anemia linked to RPL17 variants

Diamond-Blackfan anemia syndrome (DBA) is a ribosomopathy associated with loss-of-function variants in more than 20 ribosomal protein (RP) genes. Here, we report the genetic, functional, and biochemical dissection of 2 multigenerational pedigrees with variants in RPL17, a large ribosomal subunit pro...

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Principais autores:	Florence Fellmann, Carol Saunders, Marie-Françoise O’Donohue, David W. Reid, Kelsey A. McFadden, Nathalie Montel-Lehry, Cong Yu, Mingyan Fang, Jianguo Zhang, Beryl Royer-Bertrand, Pietro Farinelli, Narjesse Karboul, Jason R. Willer, Lorraine Fievet, Zahurul Alam Bhuiyan, Alissa L.W. Kleinhenz, Julie Jadeau, Joy Fulbright, Carlo Rivolta, Raffaele Renella, Nicholas Katsanis, Jacques S. Beckmann, Christopher V. Nicchitta, Lydie Da Costa, Erica E. Davis, Pierre-Emmanuel Gleizes
Formato:	Artigo
Idioma:	Inglês
Publicado:	American Society for Clinical investigation 2024-09-01
Series:	JCI Insight
Assuntos:	Genetics Hematology
Acceso en liña:	https://doi.org/10.1172/jci.insight.172475
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