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IL2RG hypomorphic mutation: identification of a novel pathogenic mutation in exon 8 and a review of the literature
BACKGROUND: Atypical X-linked severe combined immunodeficiency (X-SCID) is a variant of cellular immunodeficiency due to hypomorphic mutations in the interleukin 2 receptor gamma (IL2RG) gene. Due to a leaky clinical phenotype, diagnosis and appropriate treatment are challenging in these patients. C...
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| Publicat a: | Allergy Asthma Clin Immunol |
|---|---|
| Autors principals: | , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BioMed Central
2019
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6320602/ https://ncbi.nlm.nih.gov/pubmed/30622570 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13223-018-0317-y |
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