Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genesTSR2andRPS28
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Title
Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genesTSR2andRPS28
Authors
Keywords
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Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 164, Issue 9, Pages 2240-2249
Publisher
Wiley
Online
2014-06-19
DOI
10.1002/ajmg.a.36633
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Note: Only part of the references are listed.- Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia
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- (2012) Francois P. Bernier et al. AMERICAN JOURNAL OF HUMAN GENETICS
- NOL11, Implicated in the Pathogenesis of North American Indian Childhood Cirrhosis, Is Required for Pre-rRNA Transcription and Processing
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- (2011) E Fisher CLINICAL GENETICS
- Ribosomal Protein Genes RPS10 and RPS26 Are Commonly Mutated in Diamond-Blackfan Anemia
- (2010) Leana Doherty et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Ribosomopathies: human disorders of ribosome dysfunction
- (2010) A. Narla et al. BLOOD
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- (2010) Johannes G Dauwerse et al. NATURE GENETICS
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
- Curvilinear Mandibular Distraction in a Patient With Mandibulofacial Dysostosis Associated With Diamond-Blackfan Anemia
- (2009) Marc Z. Handler et al. JOURNAL OF CRANIOFACIAL SURGERY
- Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
- (2009) Prateek Kumar et al. Nature Protocols
- Ribosomal Protein L5 and L11 Mutations Are Associated with Cleft Palate and Abnormal Thumbs in Diamond-Blackfan Anemia Patients
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- Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference
- (2008) Adrianna Vlachos et al. BRITISH JOURNAL OF HAEMATOLOGY
- The role of human ribosomal proteins in the maturation of rRNA and ribosome production
- (2008) S. Robledo et al. RNA
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