TY  - GEN
AU  - Gerrard,Gareth
AU  - Valgañón,Mikel
AU  - Foong,Hui En
AU  - Kasperaviciute,Dalia
AU  - Iskander,Deena
AU  - Game,Laurence
AU  - Müller,Michael
AU  - Aitman,Timothy J
AU  - Roberts,Irene
AU  - de la Fuente,Josu
AU  - Foroni,Letizia
AU  - Karadimitris,Anastasios
TI  - Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia
SN  - 1365-2141
PY  - 2013///1017
KW  - Adolescent
KW  - Adult
KW  - Anemia, Diamond-Blackfan
KW  - genetics
KW  - Child
KW  - Child, Preschool
KW  - Codon, Nonsense
KW  - DNA Mutational Analysis
KW  - DNA, Ribosomal
KW  - blood
KW  - Female
KW  - Frameshift Mutation
KW  - Gene Library
KW  - High-Throughput Nucleotide Sequencing
KW  - Humans
KW  - Male
KW  - Ribosomal Proteins
KW  - Sequence Alignment
KW  - Sequence Analysis, DNA
KW  - Sequence Deletion
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1111/bjh.12397
ER  -