ID
45307
Descrição
Principal Investigator: Hanna Gazda, Children's Hospital Boston, Boston, MA, USA MeSH: Anemia, Dyserythropoietic, Congenital,Anemia, Diamond-Blackfan https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000474 In this study we have performed exome sequencing using the hybrid capture method that has previously been described (Gnirke et al., Nature Biotechnology, 2009) on genomic DNA samples from patients with the congenital bone marrow failure syndrome that affects the erythroid lineage, specifically, Diamond-Blackfan anemia. This disease is characterized by a hypoplastic anemia and approximately 50% of cases are attributable to mutations in ribosomal protein gene subunits. The other 50% of cases do not have a known genetic etiology and the purpose of this study is to attempt to delineate such causes.
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Versões (1)
- 19/10/2022 19/10/2022 - Adrian Schulz
Titular dos direitos
Hanna Gazda, Children's Hospital Boston, Boston, MA, USA
Transferido a
19 de outubro de 2022
DOI
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Licença
Creative Commons BY 4.0
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dbGaP phs000474 Biology and Molecular Analysis of Human Hematopoiesis Genetics
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Eligibility Criteria
C0680251 (UMLS CUI [1,2])