Targeted next generation sequencing for the diagnosis of patients with rare congenital anemias. [electronic resource]
Producer: 20181211Description: 297-304 p. digitalISSN:- 1600-0609
- Adolescent
- Adult
- Anemia -- blood
- Anemia, Dyserythropoietic, Congenital -- diagnosis
- Anemia, Hemolytic, Congenital -- diagnosis
- Anemia, Hemolytic, Congenital Nonspherocytic -- diagnosis
- Anemia, Sideroblastic -- diagnosis
- Bone Marrow -- pathology
- Child
- Child, Preschool
- Computational Biology
- Erythrocyte Indices
- Female
- Genetic Association Studies
- Genetic Predisposition to Disease
- Genetic Testing
- High-Throughput Nucleotide Sequencing
- Humans
- Hydrops Fetalis -- diagnosis
- Male
- Mutation
- Pyruvate Kinase -- deficiency
- Pyruvate Metabolism, Inborn Errors -- diagnosis
- Rare Diseases
- Young Adult
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Publication Type: Journal Article
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