This project aims to analyse in an unbiased way the existence of genetic variants that contribute to explaining and predicting the differences in clinical expression between patients with HAE.
Study Type
OBSERVATIONAL
Enrollment
200
Hospital Universitari Vall d'Hebron
Barcelona, Spain
Hospital Universitario La Paz
Madrid, Spain
Set of validated disease-modifying genetic variants in Spanish patients with HAE-C1INH
To identify and characterize novel genetic variants associated with the incomplete penetrance and variable clinical expressivity observed in HAE-C1INH patients.
Time frame: Day 1
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