Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia-Reference-Cited by-同舟云学术

Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia

Published:2013-05-30 Issue:4 Volume:162 Page:530-536
ISSN:0007-1048
Container-title:British Journal of Haematology
language:en
Short-container-title:Br J Haematol

Author:

Gerrard Gareth,Valgañón Mikel,Foong Hui En,Kasperaviciute Dalia¹,Iskander Deena²,Game Laurence³,Müller Michael¹,Aitman Timothy J.,Roberts Irene,de la Fuente Josu,Foroni Letizia,Karadimitris Anastasios²

Affiliation:

1. Imperial NIHR Biomedical Research Centre; Imperial College London; London; UK

2. Centre for Haematology; Faculty of Medicine; Imperial College London; Hammersmith Hospital; London; UK

3. Genomics Laboratory; MRC Clinical Sciences Centre; Imperial College London; London; UK

Publisher

Wiley

Subject

Hematology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/bjh.12397/fullpdf

Reference15 articles.

1. Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia;Doherty;American Journal of Human Genetics,2010

2. The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia;Draptchinskaia;Nature Genetics,1999

3. Untangling the phenotypic heterogeneity of Diamond Blackfan anemia;Farrar;Seminars in Hematology,2011

4. Ribosomal protein gene deletions in Diamond-Blackfan anemia;Farrar;Blood,2011

5. RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations;Gazda;British Journal of Haematology,2004

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