High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay.
about
Ribosomopathies: how a common root can cause a tree of pathologiesRibosomal Protein Rps26 Influences 80S Ribosome Assembly in Saccharomyces cerevisiae.The emerging importance of ribosomal dysfunction in the pathogenesis of hematologic disorders.Marrow failure: a window into ribosome biologyGenomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexityExploiting pre-rRNA processing in Diamond Blackfan anemia gene discovery and diagnosisThe mTORC1/4E-BP pathway coordinates hemoglobin production with L-leucine availability.In-Depth, Label-Free Analysis of the Erythrocyte Cytoplasmic Proteome in Diamond Blackfan Anemia Identifies a Unique Inflammatory Signature.Clinical utility gene card for: Diamond-Blackfan anemia--update 2013.Diminutive somatic deletions in the 5q region lead to a phenotype atypical of classical 5q- syndrome.A Case of Diamond Blackfan Anemia (DBA) with Mutation in Ribosomal Protein S19.Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia.Mitochondrial DNA variations in myelodysplastic syndrome.Haematopoietic stem cell transplantation for Diamond Blackfan anaemia: a report from the Italian Association of Paediatric Haematology and Oncology Registry.Novel 3q27.2-qter deletion in a patient with Diamond-Blackfan anemia and immunodeficiency: Case report and review of literature.Ribosomal RNA analysis in the diagnosis of Diamond-Blackfan Anaemia.Variable expressivity and incomplete penetrance in a large family with non-classical Diamond-Blackfan anemia associated with ribosomal protein L11 splicing variant.An update on the pathogenesis and diagnosis of Diamond-Blackfan anemia
P2860
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P2860
High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
High frequency of ribosomal pr ...... ent probe amplification assay.
@en
type
label
High frequency of ribosomal pr ...... ent probe amplification assay.
@en
prefLabel
High frequency of ribosomal pr ...... ent probe amplification assay.
@en
P2093
P2860
P50
P1433
P1476
High frequency of ribosomal pr ...... dent probe amplification assay
@en
P2093
Adriana Carando
Emanuela Garelli
Irma Dianzani
Paola Quarello
Patrizia Pappi
Ugo Ramenghi
P2860
P304
P356
10.3324/HAEMATOL.2012.062281
P577
2012-06-11T00:00:00Z