Πλοήγηση ανά Θέμα "SERPING1 protein, human"
Αποτελέσματα 1-6 από 6
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Deep Intronic SERPING1 Gene Variants: Ending One Odyssey and Starting Another?
(2021)[No abstract available] -
Driving towards Precision Medicine for angioedema without wheals
(2019)Evidence accumulated over the last two decades indicates that recurrent angioedema without wheals constitutes a diverse family of disorders with a much higher complexity than was previously regarded. Indicatively, during ... -
Genetics of Hereditary Angioedema Revisited
(2016)Contemporary genetic research has provided evidences that angioedema represents a diverse family of disorders related to kinin metabolism, with a much greater genetic complexity than was initially considered. Convincing ... -
Hereditary Angioedema with Normal C1 Inhibitor: Update on Evaluation and Treatment
(2017)A new form of hereditary angioedema (HAE) was identified in the year 2000. Its clinical appearance resembles HAE types I and II, which are caused by mutations that result in a deficiency of C1 inhibitor (C1-INH). In patients ... -
A novel deep intronic SERPING1 variant as a cause of hereditary angioedema due to C1-inhibitor deficiency
(2020)Background: In about 5% of patients with hereditary angioedema due to C1-inhibitor deficiency (C1-INH-HAE) no mutation in the SERPING1 gene is detected. Methods: C1-INH-HAE cases with no mutation in the coding region of ... -
Targeted next-generation sequencing for the molecular diagnosis of hereditary angioedema due to C1-inhibitor deficiency
(2018)SERPING1 genotyping of subjects suspicious for hereditary angioedema due to C1-INH deficiency (C1-INH-HAE) is important for clinical practice as well as for research reasons. Conventional approaches towards the detection ...