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Novel compound heterozygous stop‐gain mutations of LRBA in a Vietnamese patient with Common Variable Immune Deficiency
BACKGROUND: Lipopolysaccharide‐responsive and beige‐like anchor (LRBA) deficiency is a rare autosomal recessive common variable immunodeficiency (CVID), affecting 1:25,000–1:50,000 people worldwide. Biallelic mutations in the gene LRBA have been implicated in affected individuals. METHODS: We report...
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| Publicado no: | Mol Genet Genomic Med |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7216813/ https://ncbi.nlm.nih.gov/pubmed/32154999 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1216 |
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