Associated Papers
Restriction of C1-inhibitor activity in hereditary angioedema by dominant-negative effects of disease-associated SERPING1 gene variants.
Ryø LB et al.
The Journal of Allergy and Clinical Immunology, 2023
De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.
Palmer EE et al.
Molecular Psychiatry, 2018
27550844 (PubMed )
Supplement: mp2016135x1.doc
Genotype-phenotype correlations in ACTA1 mutations that cause congenital myopathies.
Feng JJ et al.
Neuromuscular Disorders : Nmd, 2009
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