An atypical form of 60S ribosomal subunit in Diamond-Blackfan anemia linked to RPL17 variants-Reference-Cited by-同舟云学术

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

Published:2024-08-01 Issue:17 Volume:9 Page:
ISSN:2379-3708
Container-title:JCI Insight
language:en
Short-container-title:

Author:

Fellmann Florence,Saunders Carol,O’Donohue Marie-Françoise,Reid David W.,McFadden Kelsey A.,Montel-Lehry Nathalie,Yu Cong,Fang Mingyan^ORCID,Zhang Jianguo,Royer-Bertrand Beryl,Farinelli Pietro,Karboul Narjesse,Willer Jason R.,Fievet Lorraine,Bhuiyan Zahurul Alam,Kleinhenz Alissa L.W.,Jadeau Julie,Fulbright Joy^ORCID,Rivolta Carlo^ORCID,Renella Raffaele^ORCID,Katsanis Nicholas,Beckmann Jacques S.,Nicchitta Christopher V.,Da Costa Lydie,Davis Erica E.,Gleizes Pierre-Emmanuel

Funder

Agence Nationale de la Recherche

European Union’s Horizon 2020 research and innovation program under the European Joint Research Program on Rare Diseases

Agence nationale de la Recherche

US National Institutes of Health

Publisher

American Society for Clinical Investigation

Link

https://insight.jci.org/articles/view/172475/files/pdf

Reference81 articles.

1. Congenital Hypoplastic Anemia

2. Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference

3. Diamond-Blackfan anemia

4. Ribosomopathies: how a common root can cause a tree of pathologies

5. Ribosomopathies: There’s strength in numbers

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