A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1

Hereditary angioedema with C1 inhibitor deficiency (C1-INH-HAE) is characterized by relapsing, non-pruritic swelling in skin and submucosal tissue. Symptoms can appear in early infancy when diagnosis is more difficult. In the absence of a correct diagnosis, treatment of abdominal attacks often lead...

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Xehetasun bibliografikoak
Argitaratua izan da:PLoS One
Egile Nagusiak: Johnsrud, Irene, Kulseth, Mari Ann, Rødningen, Olaug Kristin, Landrø, Linn, Helsing, Per, Waage Nielsen, Erik, Heimdal, Ketil
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Public Library of Science 2015
Gaiak:
Research Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4496036/
https://ncbi.nlm.nih.gov/pubmed/26154504
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0131637
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