[HTML][HTML] Restriction of C1-inhibitor activity in hereditary angioedema by dominant-negative effects of disease-associated SERPING1 gene variants
LB Ryø, D Haslund, AB Rovsing, R Pihl… - Journal of Allergy and …, 2023 - Elsevier
Background Patients with hereditary angioedema experience recurrent, sometimes life-
threatening, attacks of edema. It is a rare genetic disorder characterized by genetic and
clinical heterogenicity. Most cases are caused by genetic variants in the SERPING1 gene
leading to plasma deficiency of the encoded protein C1 inhibitor (C1INH). More than 500
different hereditary angioedema–causing variants have been identified in the SERPING1
gene, but the disease mechanisms by which they result in pathologically low C1INH plasma …
threatening, attacks of edema. It is a rare genetic disorder characterized by genetic and
clinical heterogenicity. Most cases are caused by genetic variants in the SERPING1 gene
leading to plasma deficiency of the encoded protein C1 inhibitor (C1INH). More than 500
different hereditary angioedema–causing variants have been identified in the SERPING1
gene, but the disease mechanisms by which they result in pathologically low C1INH plasma …
[CITATION][C] Faculty Opinions recommendation of Restriction of C1-inhibitor activity in hereditary angioedema by dominant-negative effects of disease-associated …
T Miyata - (No Title), 2023 - cir.nii.ac.jp
Faculty Opinions recommendation of Restriction of C1-inhibitor activity in hereditary
angioedema by dominant-negative effects of disease-associated SERPING1 gene variants. |
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angioedema by dominant-negative effects of disease-associated SERPING1 gene variants. |
CiNii Research CiNii 国立情報学研究所 学術情報ナビゲータ[サイニィ] 詳細へ移動 検索フォームへ
移動 論文・データをさがす 大学図書館の本をさがす 日本の博士論文をさがす English 検索 タイトル
人物/団体名 所属機関 ISSN DOI 期間 ~ 本文リンク 本文リンクあり データソース JaLC IRDB Crossref
DataCite NDL NDL-Digital RUDA JDCat NINJAL CiNii Articles CiNii Books CiNii Dissertations …