A novel pathogenic mutation in RPL11 identified in a patient diagnosed with diamond Blackfan anemia as a young adult.
Department of Pediatrics, Division of Hematology/Oncology, Stanford University School of Medicine and Lucile Packard Children's Hospital, Stanford, CA, USA. Electronic address: anunarla@stanford.edu.
Anupama
A
Narla
Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.
Daniel
D
Yuan
Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.
Shideh
S
Kazerounian
Department of Pediatrics, Division of Hematology/Oncology, Stanford University School of Medicine and Lucile Packard Children's Hospital, Stanford, CA, USA.
Corinne
C
LaVasseur
Division of Hematology/Oncology, The Manton Center for Orphan Disease Research, Boston Children's Hospital and Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.
Jacob C
JC
Ulirsch
Department of Pathology, Regional Medical Center, San Jose, CA, USA.
Jyothsna
J
Narla
Department of Pediatrics, Division of Hematology/Oncology, Stanford University School of Medicine and Lucile Packard Children's Hospital, Stanford, CA, USA; Department of Pathology, Stanford University School of Medicine, Red Cell Special Studies Lab, Palo Alto, CA, USA.
Bertil
B
Glader
Division of Hematology/Oncology, The Manton Center for Orphan Disease Research, Boston Children's Hospital and Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.
Vijay G
VG
Sankaran
Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.
Hanna
H
Gazda
D000328:Adult; D029503:Anemia, Diamond-Blackfan / Q000097:blood / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D008297:Male; D012269:Ribosomal Proteins / Q000235:genetics* / Q000378:metabolism; D055815:Young Adult
D012269:Ribosomal Proteins; C027624:ribosomal protein L11