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Case Report: Exome Sequencing Reveals LRBA Deficiency in a Patient With End-Stage Renal Disease
Background: Lipopolysaccharide-responsive and beige-like anchor protein (LRBA) deficiency is characterized by autoimmunity, chronic diarrhea, and immunodeficiency. Minor renal manifestations have been found in a few patients, but kidney disease has not been systematically studied and may remain unde...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7078106/ https://www.ncbi.nlm.nih.gov/pubmed/32219082 http://dx.doi.org/10.3389/fped.2020.00042 |