Associated Papers
Rare heterozygous truncating variations and risk of autism spectrum disorder: Whole-exome sequencing of a multiplex family and follow-up study in a Japanese population.
Inoue E et al.
Psychiatry and Clinical Neurosciences, 2015
Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia.
Gerrard G et al.
British Journal of Haematology, 2013
The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update.
Boria I et al.
Human Mutation, 2010
Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia.
Gazda HT et al.
American Journal of Human Genetics, 2006
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