A novel pathogenic mutation in RPL11 identified in a patient diagnosed with diamond Blackfan anemia as a young adult

Blood Cells, Molecules, and Diseases

Volumn 61, Issue , 2016, Pages 46-47

  Narla, Anupama ^a   Yuan, Daniel ^b   Kazerounian, Shideh ^b   LaVasseur, Corinne ^a   Ulirsch, Jacob C ^b   Narla, Jyothsna ^c   Glader, Bertil ^a   Sankaran, Vijay G ^b   Gazda, Hanna ^b  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b BOSTON CHILDREN S HOSPITAL   (United States)

^c Regional Medical Center   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CORTICOSTEROID; ERYTHROPOIETIN; HEMOGLOBIN; IRON; MESSENGER RNA; RIBOSOMAL PROTEIN L11; RIBOSOME PROTEIN;

ADULT; BLACKFAN DIAMOND ANEMIA; BLOOD CELL COUNT; BONE MARROW BIOPSY; CASE REPORT; CONGENITAL HEART MALFORMATION; ECHOCARDIOGRAPHY; ERYTHROCYTE TRANSFUSION; ERYTHROID HYPOPLASIA; FATIGUE; FOLLOW UP; GENE; GENETIC STABILITY; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPOPLASIA; INTRON; LETTER; MALE; MEAN CORPUSCULAR VOLUME; MUTATIONAL ANALYSIS; PALLOR; POINT MUTATION; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; RNA SPLICING; RPL11 GENE; YOUNG ADULT; BLOOD; GENETICS; METABOLISM;

ADULT; ANEMIA, DIAMOND-BLACKFAN; HUMANS; MALE; RIBOSOMAL PROTEINS; YOUNG ADULT;

EID: 84983627721     PISSN: 10799796     EISSN: 10960961     Source Type: Journal    
DOI: 10.1016/j.bcmd.2016.08.001     Document Type: Letter

References (2)

1. [1] Sankaran, V.G., Ghazvinian, R., Do, R., Thiru, P., Vergilio, J.A., Beggs, A.H., Sieff, C.A., Orkin, S.H., Nathan, D.G., Lander, E.S., Gazda, H.T., Exome sequencing identifies GATA1 mutations resulting in diamond-Blackfan anemia. J. Clin. Invest. 122:7 (2012 Jul), 2439–2443.
2. [2] Vlachos, A., Ball, S., Dahl, N., Alter, B.P., Sheth, S., Ramenghi, U., Meerpohl, J., Karlsson, S., Liu, J.M., Leblanc, T., Paley, C., Kang, E.M., Leder, E.J., Atsidaftos, E., Shimamura, A., Bessler, M., Glader, B., Lipton, J.M., Diagnosing and treating diamond Blackfan anaemia: results of an international clinical consensus conference. Br. J. Haematol. 142:6 (2008 Sep), 859–876.