Genotype-first analysis of a generally healthy population cohort supports genetic testing for diagnosis of hereditary angioedema of unknown cause

Genotype-first analysis of a generally healthy population cohort supports genetic testing for diagnosis of hereditary angioedema of unknown cause

Abstract Background Hereditary angioedema (HAE) is a potentially life-threatening group of conditions that is often underdiagnosed or misdiagnosed. As HAE is typically diagnosed by detecting C1 inhibitor deficiency, there is a critical need for methods that can identify affected individuals with nor...

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Bibliographic Details
Main Authors: Dale L. Bodian, Thierry Vilboux, Natalie S. Hauser
Format: Article
Language:English
Published: BMC 2019-05-01
Series:Allergy, Asthma & Clinical Immunology
Subjects:
Nextgen sequencing
Clinical sequencing
Hereditary angioedema
Angioedema
Plasminogen
PLG
Online Access:http://link.springer.com/article/10.1186/s13223-019-0346-1

Internet

http://link.springer.com/article/10.1186/s13223-019-0346-1

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