Male X-chromosome mosaicism leading to carrier phenotype and inheritance of chronic granulomatous disease. [electronic resource]
Producer: 20191114Description: 1775-1777.e1 p. digitalISSN:- 2213-2201
- Cells, Cultured
- Female
- Genes, X-Linked
- Genetic Testing -- methods
- Granulomatous Disease, Chronic -- diagnosis
- Hematopoiesis -- genetics
- Heterozygote
- High-Throughput Nucleotide Sequencing
- Humans
- Male
- Middle Aged
- Mosaicism
- Mutation -- genetics
- NADPH Oxidase 2 -- genetics
- Neutrophil Activation -- genetics
- Pedigree
- Phenotype
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Publication Type: Case Reports; Letter
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