A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond–Blackfan anemia

Diamond–Blackfan anemia (DBA) is a rare genetic hypoplasia of erythroid progenitors characterized by mild to severe anemia and associated with congenital malformations. Clinical manifestations in DBA patients are quite variable and genetic testing has become a critical factor in establishing a diagn...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Hum Mutat
Autors principals: Aspesi, Anna, Betti, Marta, Sculco, Marika, Actis, Chiara, Olgasi, Cristina, Wlodarski, Marcin W., Vlachos, Adrianna, Lipton, Jeffrey M., Ramenghi, Ugo, Santoro, Claudio, Follenzi, Antonia, Ellis, Steven R., Dianzani, Irma
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2018
Matèries:
Research Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6055729/
https://ncbi.nlm.nih.gov/pubmed/29766597
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23551
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars