Correction: A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1
نویسندگان
چکیده
There are errors in the author affiliations. The affiliations should appear as shown here: Irene Johnsrud Mari Ann Kulseth, Olaug Kristin Rødningen, Linn Landrø, Per Helsing, Erik Waage Nielsen 2,4,5,6, Ketil Heimdal 1 Department of Dermatology, Oslo University Hospital, Rikshospitalet, N 0027 Oslo, Norway 2 Institute of Clinical Medicine, University of Oslo, N 0316 Oslo, Norway 3 Department of Medical Genetics, Oslo University Hospital, N 0027 Oslo, Norway 4 Department of Anesthesiology, Nordland Hospital, N 8092 Bodø, Norway 5 Faculty of Health Sciences, University of Tromsø, 9037 Tromsø, Norway 6 University of Nordland, Faculty of Professional Studies, 8049 Bodø, Norway The order of S1 and S2 figs are switched. Please see the complete, correct S1 and S2 Figs here.
منابع مشابه
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 to unnecessary surgery, and laryngeal edema can cause asphyxiation. A cohort study of 52 patients...
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Hereditary angioedema (HAE) is a rare autosomal dominant disease characterized by swelling of the face, lips, tongue, larynx, genitalia, or extremities, with abdominal pain caused by intra-abdominal edema. HAE is caused by mutations affecting the C1 inhibitor gene, SERPING1, resulting in low levels of C1 inhibitor (Type I HAE) or normal levels of ineffective C1 inhibitor (Type II HAE). A nation...
متن کاملHereditary Angioedema Due to C1 Inhibitor Deficiency in Serbia: Two Novel Mutations and Evidence of Genotype-Phenotype Association
Hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE) is a rare autosomal dominant disease characterized by recurrent life-threatening oedemas and/or abdominal pain and caused by mutations affecting the C1 inhibitor gene, SERPING1. We sought to investigate the spectrum of SERPING1 mutations in Serbia and the possible genotype-phenotype association. C1-INH-HAE was diagnosed on the ba...
متن کاملMutational spectrum of the SERPING1 gene in Swiss patients with hereditary angioedema.
Hereditary angioedema with C1 inhibitor deficiency (C1-INH-HAE) is a rare autosomal dominant disease caused by mutations in the C1 inhibitor gene SERPING1. Phenotype and clinical features of the disease are extremely heterogeneous, varying even within the same family. Compared to HAE cohorts in other countries, the genetic background of the Swiss HAE patients has not yet been elucidated. In the...
متن کاملExpression of the SERPING1 gene is not regulated by promoter hypermethylation in peripheral blood mononuclear cells from patients with hereditary angioedema due to C1-inhibitor deficiency
SERPING1 mutations causing Hereditary Angioedema type I (HAE-I) due to C1-Inhibitor (C1-INH) deficiency display a dominant-negative effect usually resulting in protein levels far below the expected 50%. To further investigate mechanisms for its reduced expression, we analyzed the promoter DNA methylation status of SERPING1 and its influence on C1-INH expression. Global epigenetic reactivation c...
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عنوان ژورنال:
دوره 10 شماره
صفحات -
تاریخ انتشار 2015