First report of a FXII gene mutation in a Brazilian family with hereditary angioedema with normal C1 inhibitor
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First report of a FXII gene mutation in a Brazilian family with hereditary angioedema with normal C1 inhibitor. / Stieber, C; Grumach, A S; Cordeiro, E; Constantino-Silva, R N; Barth, S; Hoffmann, P; Renné, T; Nöthen, M M; Cichon, S.
in: BRIT J DERMATOL, Jahrgang 173, Nr. 4, 27.03.2015, S. 1102-1104.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - First report of a FXII gene mutation in a Brazilian family with hereditary angioedema with normal C1 inhibitor
AU - Stieber, C
AU - Grumach, A S
AU - Cordeiro, E
AU - Constantino-Silva, R N
AU - Barth, S
AU - Hoffmann, P
AU - Renné, T
AU - Nöthen, M M
AU - Cichon, S
N1 - This article is protected by copyright. All rights reserved.
PY - 2015/3/27
Y1 - 2015/3/27
N2 - Hereditary angioedema (HAE [MIM #106100]) is an autosomal dominant condition characterized by recurrent swellings of the skin, the gastrointestinal and laryngeal tract and the inner organs. Frequent complications are potentially life-threatening swellings of tongue, pharynx and larynx that can result in asphyxiation if not treated. The most common forms of HAE with C1 inhibitor deficiency are caused by mutations in the SERPING1 gene.(1) They lead to functional deficiency of C1-INH resulting in excessive contact system-mediated formation of the peptide bradykinin which increases vascular permeability thereby leading to angioedema.(2) This article is protected by copyright. All rights reserved.
AB - Hereditary angioedema (HAE [MIM #106100]) is an autosomal dominant condition characterized by recurrent swellings of the skin, the gastrointestinal and laryngeal tract and the inner organs. Frequent complications are potentially life-threatening swellings of tongue, pharynx and larynx that can result in asphyxiation if not treated. The most common forms of HAE with C1 inhibitor deficiency are caused by mutations in the SERPING1 gene.(1) They lead to functional deficiency of C1-INH resulting in excessive contact system-mediated formation of the peptide bradykinin which increases vascular permeability thereby leading to angioedema.(2) This article is protected by copyright. All rights reserved.
U2 - 10.1111/bjd.13791
DO - 10.1111/bjd.13791
M3 - SCORING: Journal article
C2 - 25816745
VL - 173
SP - 1102
EP - 1104
JO - BRIT J DERMATOL
JF - BRIT J DERMATOL
SN - 0007-0963
IS - 4
ER -