Evidence for a dominant-negative effect of a missense mutation in the SERPING1 gene responsible for hereditary angioedema type I.

Yasuno, Shuichiro; Ansai, Osamu; Hayashi, Ryota; Nakamura, Sawako; Shimomura, Yutaka

Yasuno, Shuichiro; Ansai, Osamu; Hayashi, Ryota; Nakamura, Sawako; Shimomura, Yutaka.

Afiliação

Yasuno S; Department of Dermatology, Yamaguchi University Graduate School of Medicine, Ube, Japan.
Ansai O; Division of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
Hayashi R; Division of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
Nakamura S; Department of Dermatology, Yamaguchi University Graduate School of Medicine, Ube, Japan.
Shimomura Y; Department of Dermatology, Yamaguchi University Graduate School of Medicine, Ube, Japan.

J Dermatol ; 48(8): 1243-1249, 2021 Aug.

Article em En | MEDLINE | ID: mdl-33914953

Assuntos

Angioedemas Hereditários; Angioedema Hereditário Tipos I e II; Angioedemas Hereditários/diagnóstico; Angioedemas Hereditários/genética; Proteína Inibidora do Complemento C1/genética; Angioedema Hereditário Tipos I e II/diagnóstico; Angioedema Hereditário Tipos I e II/genética; Humanos; Mutação; Mutação de Sentido Incorreto

Palavras-chave

SERPING1; C1INH; dominant-negative effect; hereditary angioedema; mutation

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Angioedemas Hereditários / Angioedema Hereditário Tipos I e II Idioma: En Ano de publicação: 2021 Tipo de documento: Article

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