Exome sequencing identified RPS15A as a novel causative gene for Diamond-Blackfan anemia
about
Lymphoblastoid cell lines from Diamond Blackfan anaemia patients exhibit a full ribosomal stress phenotype that is rescued by gene therapy.Pediatric Diamond-Blackfan anemia in the Netherlands: An overview of clinical characteristics and underlying molecular defects.Recurring mutations in RPL15 are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia.
P2860
Exome sequencing identified RPS15A as a novel causative gene for Diamond-Blackfan anemia
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
2016年论文
@zh
2016年论文
@zh-cn
name
Exome sequencing identified RPS15A as a novel causative gene for Diamond-Blackfan anemia
@en
Exome sequencing identified RPS15A as a novel causative gene for Diamond-Blackfan anemia
@nl
type
label
Exome sequencing identified RPS15A as a novel causative gene for Diamond-Blackfan anemia
@en
Exome sequencing identified RPS15A as a novel causative gene for Diamond-Blackfan anemia
@nl
prefLabel
Exome sequencing identified RPS15A as a novel causative gene for Diamond-Blackfan anemia
@en
Exome sequencing identified RPS15A as a novel causative gene for Diamond-Blackfan anemia
@nl
P2093
P2860
P50
P1433
P1476
Exome sequencing identified RPS15A as a novel causative gene for Diamond-Blackfan anemia
@en
P2093
Aiko Sato-Otsubo
Akie Kobayashi
Akira Ohara
Etsuro Ito
Fumika Ikeda
Hideki Muramatsu
Hiroko Tanaka
Hitoshi Kanno
Kenichi Chiba
Kiminori Terui
P2860
P304
P356
10.3324/HAEMATOL.2016.153932
P577
2016-12-01T00:00:00Z