Navegação Ciências Biológicas por Assunto "Mutação com ganho de função"
Resultados 1-1 de 1
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Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease : functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome
(2022) [Artigo de periódico]Objectives: To test the hypothesis that ROSAH (retinal dystrophy, optic nerve oedema, splenomegaly, anhidrosis and headache) syndrome, caused by dominant mutation in ALPK1, is an autoinflammatory disease. Methods: This ...