Case Report: Identification of a novel mutation, c.1067T > A, in the SERPING1 gene in a Chinese male with type 1 hereditary angioedema

Hereditary angioedema (HAE) is a rare autosomal dominant genetic disorder characterized by recurrent, unpredictable episodes of angioedema that commonly involve the face, limbs, respiratory tract, and gastrointestinal tract. Clinical presentations vary substantially among individuals, increasing the...

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Autors principals:	Wenjin Du, Ke Yang, Qiuxing Zhang, Xianghua Lin, Wenchao Zhang, Weili Guo, Zhaoji Meng, Siqin Wang
Format:	Artigo
Idioma:	Inglês
Publicat:	Frontiers Media S.A. 2025-04-01
Col·lecció:	Frontiers in Allergy
Matèries:	SERPING1 gene hereditary angioedema (HAE) mutation case report C1 inhibitor (C1INH)
Accés en línia:	https://www.frontiersin.org/articles/10.3389/falgy.2025.1554940/full
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