Mutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia.
about
Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia.Systematic transcriptome analysis of the zebrafish model of diamond-blackfan anemia induced by RPS24 deficiency.Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia.Untangling the phenotypic heterogeneity of Diamond Blackfan anemia.Ribosomal protein gene deletions in Diamond-Blackfan anemia.Clinical and hematologic manifestations in patients with Diamond Blackfan anemia in Korea.The spectrum of non-classical Diamond-Blackfan anemia: a case of late beginning transfusion dependency associated to a new RPL5 mutationConcise Review: Getting to the Core of Inherited Bone Marrow Failures.Ribosomal protein mutations in Korean patients with Diamond-Blackfan anemia.Inherited bone marrow failure syndromes in 2012.Current insights into inherited bone marrow failure syndromesDiamond Blackfan Anemia: A Nonclassical Patient With Diagnosis Assisted by Genomic Analysis.Exome sequencing identified RPS15A as a novel causative gene for Diamond-Blackfan anemiaInherited bone marrow failure syndromes.Molecular analysis and genotype-phenotype correlation of Diamond-Blackfan anemia.Diagnostic challenge of Diamond-Blackfan anemia in mothers and children by whole-exome sequencing.Clinical phenotype and genetic analysis of RPS19, RPL5, and RPL11 genes in Greek patients with Diamond Blackfan Anemia.Variable expressivity and incomplete penetrance in a large family with non-classical Diamond-Blackfan anemia associated with ribosomal protein L11 splicing variant.
P2860
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P2860
Mutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia.
description
2010 nî lūn-bûn
@nan
2010 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Mutations in the ribosomal pro ...... with Diamond-Blackfan anemia.
@ast
Mutations in the ribosomal pro ...... with Diamond-Blackfan anemia.
@en
Mutations in the ribosomal pro ...... with Diamond-Blackfan anemia.
@nl
type
label
Mutations in the ribosomal pro ...... with Diamond-Blackfan anemia.
@ast
Mutations in the ribosomal pro ...... with Diamond-Blackfan anemia.
@en
Mutations in the ribosomal pro ...... with Diamond-Blackfan anemia.
@nl
prefLabel
Mutations in the ribosomal pro ...... with Diamond-Blackfan anemia.
@ast
Mutations in the ribosomal pro ...... with Diamond-Blackfan anemia.
@en
Mutations in the ribosomal pro ...... with Diamond-Blackfan anemia.
@nl
P2093
P2860
P1433
P1476
Mutations in the ribosomal pro ...... with Diamond-Blackfan anemia.
@en
P2093
Asahito Hama
Daiichiro Hasegawa
Etsuro Ito
Kanji Sugita
Kenichi Koike
Kiminori Terui
Myoung-Ja Park
Runan Wang
P2860
P304
P356
10.3324/HAEMATOL.2009.020826
P577
2010-04-07T00:00:00Z