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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, Vol. 173, No. 4, 27.03.2015, p. 1102-1104.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Stieber, C, Grumach, AS, Cordeiro, E, Constantino-Silva, RN, Barth, S, Hoffmann, P, Renné, T, Nöthen, MM & Cichon, S 2015, 'First report of a FXII gene mutation in a Brazilian family with hereditary angioedema with normal C1 inhibitor', BRIT J DERMATOL, vol. 173, no. 4, pp. 1102-1104. https://doi.org/10.1111/bjd.13791

APA

Stieber, C., Grumach, A. S., Cordeiro, E., Constantino-Silva, R. N., Barth, S., Hoffmann, P., Renné, T., Nöthen, M. M., & Cichon, S. (2015). First report of a FXII gene mutation in a Brazilian family with hereditary angioedema with normal C1 inhibitor. BRIT J DERMATOL, 173(4), 1102-1104. https://doi.org/10.1111/bjd.13791

Vancouver

Stieber C, Grumach AS, Cordeiro E, Constantino-Silva RN, Barth S, Hoffmann P et al. First report of a FXII gene mutation in a Brazilian family with hereditary angioedema with normal C1 inhibitor. BRIT J DERMATOL. 2015 Mar 27;173(4):1102-1104. https://doi.org/10.1111/bjd.13791

Bibtex

@article{c833140f2c3347c6b9965fbf666ef4a5,
title = "First report of a FXII gene mutation in a Brazilian family with hereditary angioedema with normal C1 inhibitor",
abstract = "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.",
author = "C Stieber and Grumach, {A S} and E Cordeiro and Constantino-Silva, {R N} and S Barth and P Hoffmann and T Renn{\'e} and N{\"o}then, {M M} and S Cichon",
note = "This article is protected by copyright. All rights reserved.",
year = "2015",
month = mar,
day = "27",
doi = "10.1111/bjd.13791",
language = "English",
volume = "173",
pages = "1102--1104",
journal = "BRIT J DERMATOL",
issn = "0007-0963",
publisher = "Wiley-Blackwell",
number = "4",

}

RIS

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 -