Associated Papers
Molecular assessment of splicing variants in a cohort of patients with inborn errors of immunity: methodological approach and interpretation remarks.
Miguel Berenguel L et al.
Frontiers in Immunology, 2024
In Search of an Association Between Genotype and Phenotype in Hereditary Angioedema due to C1-INH Deficiency.
Loli-Ausejo D et al.
Clinical Reviews in Allergy & Immunology, 2021
A novel deep intronic SERPING1 variant as a cause of hereditary angioedema due to C1-inhibitor deficiency.
Vatsiou S et al.
Allergology International : Official Journal of the Japanese Society of Allergology, 2020
SERPING1 mutations in 59 families with hereditary angioedema.
López-Lera A et al.
Molecular Immunology, 2011
Hereditary angioedema: the mutation spectrum of SERPING1/C1NH in a large Spanish cohort.
Roche O et al.
Human Mutation, 2005
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