Identification of red blood cell membrane defects in a patient with hereditary spherocytosis using next‑generation sequencing technology and matrix‑assisted laser desorption/ionization time‑of‑flight mass spectrometry. [electronic resource]
Producer: 20190819Description: 3912-3922 p. digitalISSN:- 1791-3004
- Adult
- Aged
- Biomarkers -- analysis
- Case-Control Studies
- Child
- Erythrocyte Membrane -- genetics
- Female
- High-Throughput Nucleotide Sequencing -- methods
- Humans
- Male
- Membrane Proteins -- genetics
- Middle Aged
- Mutation
- Pedigree
- Phenotype
- Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization -- methods
- Spherocytosis, Hereditary -- genetics
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Publication Type: Case Reports; Journal Article
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