Homozygosity for a factor XII mutation in one female and one male patient with hereditary angio-oedema.

Grumach, A S; Stieber, C; Veronez, C L; Cagini, N; Constantino-Silva, R N; Cordeiro, E; Nöthen, M M; Pesquero, J B; Cichon, S

Grumach, A S; Stieber, C; Veronez, C L; Cagini, N; Constantino-Silva, R N; Cordeiro, E; Nöthen, M M; Pesquero, J B; Cichon, S.

Afiliación

Grumach AS; Outpatient Group of Recurrent Infections and Laboratory of Clinical Immunology, Faculty of Medicine ABC, Santo André, Brazil.
Stieber C; Department of Genomics, Life & Brain Center, Institute of Human Genetics, University of Bonn, Bonn, Germany.
Veronez CL; Center for Rare Diseases Bonn, University Hospital of Bonn, Bonn, Germany.
Cagini N; Department of Biophysics, Universidade Federal de Sao Paulo, São Paulo, Brazil.
Constantino-Silva RN; Department of Biophysics, Universidade Federal de Sao Paulo, São Paulo, Brazil.
Cordeiro E; Outpatient Group of Recurrent Infections and Laboratory of Clinical Immunology, Faculty of Medicine ABC, Santo André, Brazil.
Nöthen MM; Outpatient Group of Recurrent Infections and Laboratory of Clinical Immunology, Faculty of Medicine ABC, Santo André, Brazil.
Pesquero JB; Department of Genomics, Life & Brain Center, Institute of Human Genetics, University of Bonn, Bonn, Germany.
Cichon S; Center for Rare Diseases Bonn, University Hospital of Bonn, Bonn, Germany.

Allergy ; 71(1): 119-23, 2016 Jan.

Article en En | MEDLINE | ID: mdl-26392288

Asunto(s)

Angioedemas Hereditarios/diagnóstico; Angioedemas Hereditarios/genética; Factor XII/genética; Homocigoto; Mutación; Adulto; Anciano; Alelos; Sustitución de Aminoácidos; Brasil; Codón; Femenino; Humanos; Masculino; Persona de Mediana Edad; Linaje; Fenotipo

Palabras clave

factor XII; hereditary angio-oedema; homozygosity

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Factor XII / Angioedemas Hereditarios / Homocigoto / Mutación Límite: Adult / Aged / Female / Humans / Male / Middle aged País/Región como asunto: America do sul / Brasil Idioma: En Revista: Allergy Año: 2016 Tipo del documento: Article País de afiliación: Brasil

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