Genetic alterations and pathways in patients with Hereditary Angioedema of Unknown Cause (U-HAE)
MARMARA MEDICAL JOURNAL, cilt.34, sa.3, ss.274-278, 2021 (ESCI, Scopus, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 34 Sayı: 3
- Basım Tarihi: 2021
- Doi Numarası: 10.5472/marumj.1009115
- Dergi Adı: MARMARA MEDICAL JOURNAL
- Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, Academic Search Premier, CINAHL, EMBASE, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.274-278
- Anahtar Kelimeler: Hereditary angioedema of unknown cause ( U-HAE), Whole exome sequencing (WES ), Genetic
- Dokuz Eylül Üniversitesi Adresli: Evet
Özet
Objective: Hereditary angioedema ( HAE) with normal C1 inhibitor (HAE-nC1-INH), is a genetically complex, rare disease and mutations in F12, ANGPT1, PLG, MYOF genes are found in some families with HAE-nC1-INH. However, often a specific mutation cannot be identified and this type is called as hereditary angioedema of unknown cause (U-HAE). Our aim was to identify putative causative genetic alterations and/or pathways by whole exome sequencing in patients with U-HAE.