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

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 normal C1 i...

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Detalhes bibliográficos
Publicado no:Allergy Asthma Clin Immunol
Main Authors: Bodian, Dale L., Vilboux, Thierry, Hauser, Natalie S.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6524287/
https://ncbi.nlm.nih.gov/pubmed/31131012
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13223-019-0346-1
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