Mutational spectrum and genotype-phenotype relationships in a cohort of Romanian hereditary angioedema patients caused by C1 inhibitor deficiency
Background: Hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE) caused by SERPING1 mutations is a rare monogenic disorder characterized by a high frequency of de novo mutations, allelic heterogeneity and populational differences. Geno- and phenotype correlation data are limited. Addres...
Main Authors: | Gábos Gabriella, Moldovan Dumitru, Dobru Daniela, Mihály Enikő, Bara Noémi, Nădășan Valentin, Hutanu Adina, Csép Katalin |
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Format: | Article |
Language: | English |
Published: |
Sciendo
2019-07-01
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Series: | Romanian Journal of Laboratory Medicine |
Subjects: | |
Online Access: | https://doi.org/10.2478/rrlm-2019-0029 |
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