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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Bibliographic Details

Published in:	JCI Insight
Main Authors:	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
Format:	Article
Language:	English
Published:	American Society for Clinical investigation 2024-09-01
Subjects:	Genetics Hematology
Online Access:	https://doi.org/10.1172/jci.insight.172475