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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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Mol Genet Genomic Med
Prif Awduron: Phan, Anh N. L., Pham, Thuy T. T., Huynh, Nghia, Nguyen, Tuan M., Cao, Cuc T. T., Nguyen, Duong T., Le, Duc T., Bui, Chi‐Bao
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: John Wiley and Sons Inc. 2020
Pynciau:
Clinical Reports
Mynediad Ar-lein: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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