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Functionally impaired RPL8 variants associated with Diamond-Blackfan anemia and a Diamond-Blackfan anemia-like phenotype.
Lebaron, Simon; O'Donohue, Marie-Françoise; Smith, Scott C; Engleman, Kendra L; Juusola, Jane; Safina, Nicole P; Thiffault, Isabelle; Saunders, Carol J; Gleizes, Pierre-Emmanuel.
Affiliation
  • Lebaron S; Molecular, Cellular and Developmental biology department (MCD), Centre de Biologie Intégrative (CBI), University of Toulouse, CNRS, UT3, Toulouse, France.
  • O'Donohue MF; Molecular, Cellular and Developmental biology department (MCD), Centre de Biologie Intégrative (CBI), University of Toulouse, CNRS, UT3, Toulouse, France.
  • Smith SC; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, Missouri, USA.
  • Engleman KL; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri, USA.
  • Juusola J; Department of Pediatrics, Children's Mercy Hospital, Kansas City, Missouri, USA.
  • Safina NP; GeneDx Inc., Gaithersburg, Maryland, USA.
  • Thiffault I; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri, USA.
  • Saunders CJ; Department of Pediatrics, Children's Mercy Hospital, Kansas City, Missouri, USA.
  • Gleizes PE; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, Missouri, USA.
Hum Mutat ; 43(3): 389-402, 2022 03.
Article de En | MEDLINE | ID: mdl-34961992
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Protéines ribosomiques / Anémie de Blackfan-Diamond Type d'étude: Prognostic_studies / Risk_factors_studies Limites: Humans Langue: En Journal: Hum Mutat Sujet du journal: GENETICA MEDICA Année: 2022 Type de document: Article Pays d'affiliation: France Pays de publication: États-Unis d'Amérique
Texte intégral
Ajouter à My VHL
Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Protéines ribosomiques / Anémie de Blackfan-Diamond Type d'étude: Prognostic_studies / Risk_factors_studies Limites: Humans Langue: En Journal: Hum Mutat Sujet du journal: GENETICA MEDICA Année: 2022 Type de document: Article Pays d'affiliation: France Pays de publication: États-Unis d'Amérique