[HTML][HTML] SERPING1 Variants and C1-INH Biological Function: A Close Relationship With C1-INH-HAE
Hereditary angioedema with C1 Inhibitor deficiency (C1-INH-HAE) is caused by a
constellation of variants of the SERPING1 gene (n= 809; 1,494 pedigrees), accounting for …
constellation of variants of the SERPING1 gene (n= 809; 1,494 pedigrees), accounting for …
Leveraging genetics for hereditary angioedema: a road map to precision medicine
Biochemical studies performed during the last decades resulted in the development of
various innovative medicinal products for hereditary angioedema (HAE). These therapeutic …
various innovative medicinal products for hereditary angioedema (HAE). These therapeutic …
The expanding spectrum of mutations in hereditary angioedema
The evolution in the knowledge of rare genetic diseases such as hereditary angioedema
(HAE) has increased at a parallel pace with the development of new molecular tools. The …
(HAE) has increased at a parallel pace with the development of new molecular tools. The …
Genetic variants leading to urticaria and angioedema and associated biomarkers
Advances in next generation sequencing technologies, as well as their expanded
accessibility and clinical use over the past 2 decades, have led to an exponential increase in …
accessibility and clinical use over the past 2 decades, have led to an exponential increase in …
Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort
H Grombirikova, V Bily, P Soucek, M Kramarek… - Journal of Clinical …, 2023 - Springer
Hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE) is a rare and life-
threatening condition characterized by recurrent localized edema. We conducted a …
threatening condition characterized by recurrent localized edema. We conducted a …
[HTML][HTML] Overview of SERPING1 variations identified in Hungarian patients with hereditary angioedema
E Szabó, D Csuka, N Andrási, L Varga, H Farkas… - Frontiers in …, 2022 - frontiersin.org
Background: Hereditary angioedema (HAE) due to C1-inhibitor (C1-INH) deficiency (C1-INH-
HAE) is a rare autosomal dominant disorder, characterized by recurrent, unpredictable …
HAE) is a rare autosomal dominant disorder, characterized by recurrent, unpredictable …