ID
45307
Descrizione
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.
collegamento
Keywords
versioni (1)
- 19/10/2022 19/10/2022 - Adrian Schulz
Titolare del copyright
Hanna Gazda, Children's Hospital Boston, Boston, MA, USA
Caricato su
19 octobre 2022
DOI
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Licenza
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])