A novel HAX1 gene mutation in severe congenital neutropenia (SCN) associated with neurological manifestations. [electronic resource]
Producer: 20100726Description: 661-6 p. digitalISSN:- 1432-1076
- Adaptor Proteins, Signal Transducing -- genetics
- Apoptosis
- Arabs -- genetics
- Child
- Codon, Nonsense
- DNA Mutational Analysis
- Developmental Disabilities -- ethnology
- Epilepsy, Generalized -- ethnology
- Humans
- Male
- Membrane Potential, Mitochondrial
- Neutropenia -- complications
- Neutrophils -- metabolism
- Pedigree
- Saudi Arabia
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Publication Type: Case Reports; Journal Article
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