相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia
Hanna T. Gazda et al.
HUMAN MUTATION (2012)
Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia
Vijay G. Sankaran et al.
JOURNAL OF CLINICAL INVESTIGATION (2012)
Ribosomal protein gene deletions in Diamond-Blackfan anemia
Jason E. Farrar et al.
BLOOD (2011)
Untangling the Phenotypic Heterogeneity of Diamond Blackfan Anemia
Jason E. Farrar et al.
SEMINARS IN HEMATOLOGY (2011)
Ribosomal Protein Genes RPS10 and RPS26 Are Commonly Mutated in Diamond-Blackfan Anemia
Leana Doherty et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Fast and accurate long-read alignment with Burrows-Wheeler transform
Heng Li et al.
BIOINFORMATICS (2010)
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
Aaron McKenna et al.
GENOME RESEARCH (2010)
Mutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia
Yuki Konno et al.
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL (2010)
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
Kai Wang et al.
NUCLEIC ACIDS RESEARCH (2010)
The Sequence Alignment/Map format and SAMtools
Heng Li et al.
BIOINFORMATICS (2009)
Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference
Adrianna Vlachos et al.
BRITISH JOURNAL OF HAEMATOLOGY (2008)
RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations
HT Gazda et al.
BRITISH JOURNAL OF HAEMATOLOGY (2004)
分享论文
