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About
Contact & Profiles
A5088358205
Research Areas
- RNA and protein synthesis mechanisms
- RNA modifications and cancer
- Hemoglobinopathies and Related Disorders
- Biochemical and Molecular Research
- Diverse Scientific Research Studies
- Chromosomal and Genetic Variations
- Genomics and Phylogenetic Studies
- RNA Research and Splicing
University of Maryland, College Park
2017-2019
McDaniel College
2015
10.1016/j.ajhg.2017.01.034
article
EN
publisher-specific-oa
The American Journal of Human Genetics
2017-03-01
Abstract Variants in ribosomal protein (RP) genes drive Diamond-Blackfan anemia (DBA), a bone marrow failure syndrome that can also predispose individuals to cancer. Inherited and sporadic RP gene variants are linked variety of phenotypes, including malignancy, with no anemia. Here we report an individual diagnosed DBA carrying variant the 5′UTR RPL9 (uL6). Additionally, two from family multiple cancer incidences missense variant. Analysis cells these reveals despite both driving pre-rRNA...
10.1093/nar/gkz1042
article
EN
cc-by
Nucleic Acids Research
2019-11-19
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