X-linked agammaglobulinaemia. Mutation A1246G (R372G). [electronic resource]
Producer: 20110614Description: 343-5 p. digitalISSN:- 1578-1267
- Agammaglobulinaemia Tyrosine Kinase
- Agammaglobulinemia -- complications
- B-Lymphocytes -- immunology
- Bacterial Infections -- diagnosis
- Child, Preschool
- Disease-Free Survival
- Female
- Genetic Carrier Screening
- Genetic Diseases, X-Linked -- complications
- Giardia -- immunology
- Giardiasis -- diagnosis
- Growth and Development -- genetics
- Humans
- Immunoglobulins, Intravenous -- administration & dosage
- Infant
- Lymphopenia
- Male
- Medical History Taking
- Molecular Diagnostic Techniques
- Mutation -- genetics
- Pedigree
- Protein-Tyrosine Kinases -- genetics
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Publication Type: Case Reports; Letter
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