Ribosomal Protein L5 and L11 Mutations Are Associated with Cleft Palate and Abnormal Thumbs in Diamond-Blackfan Anemia Patients

Diamond-Blackfan anemia (DBA), a congenital bone-marrow-failure syndrome, is characterized by red blood cell aplasia, macrocytic anemia, clinical heterogeneity, and increased risk of malignancy. Although anemia is the most prominent feature of DBA, the disease is also characterized by growth retarda...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: Gazda, Hanna T., Sheen, Mee Rie, Vlachos, Adrianna, Choesmel, Valerie, O'Donohue, Marie-Françoise, Schneider, Hal, Darras, Natasha, Hasman, Catherine, Sieff, Colin A., Newburger, Peter E., Ball, Sarah E., Niewiadomska, Edyta, Matysiak, Michal, Zaucha, Jan M., Glader, Bertil, Niemeyer, Charlotte, Meerpohl, Joerg J., Atsidaftos, Eva, Lipton, Jeffrey M., Gleizes, Pierre-Emmanuel, Beggs, Alan H.
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: Elsevier 2008
Θέματα:
Report
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2668101/
https://ncbi.nlm.nih.gov/pubmed/19061985
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2008.11.004
Ετικέτες: Προσθήκη ετικέτας
Δεν υπάρχουν, Καταχωρήστε ετικέτα πρώτοι!

Παρόμοια τεκμήρια