Molecular and clinical spectrum of type I plasminogen deficiency a series of 50 patients
Yazarlar (1)
| Makale Türü |
Özgün Makale
(SSCI, AHCI, SCI, SCI-Exp dergilerinde yayınlanan tam makale)
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| Dergi Adı | Blood | ||
| Dergi ISSN | 0006-4971 Wos Dergi Scopus Dergi | ||
| Dergi Tarandığı Indeksler | SCI | ||
| Makale Dili | İngilizce | Basım Tarihi | 11-2006 |
| Kabul Tarihi | 12-04-2026 | Yayınlanma Tarihi | – |
| Cilt / Sayı / Sayfa | 108 / 9 / 3021–3026 | DOI | – |
| Makale Linki | https://ashpublications.org/blood/article-pdf/108/9/3021/1284195/zh802106003021.pdf | ||
| Özet |
| Severe type I plasminogen (PLG) deficiency has been causally linked to a rare chronic inflammatory disease of the mucous membranes that may be life threatening. Here we report clinical manifestations, PLG plasma levels, and molecular genetic status of the PLG gene of 50 patients. The most common clinical manifestations among these patients were ligneous conjunctivitis (80%) and ligneous gingivitis (34%), followed by less common manifestations such as ligneous vaginitis (8%), and involvement of the respiratory tract (16%), the ears (14%), or the gastrointestinal tract (2%). Four patients showed congenital occlusive hydrocephalus, 2 with Dandy-Walker malformation of cerebellum. Venous thrombosis was not observed. In all patients, plasma PLG levels were markedly reduced. In 38 patients, distinct mutations in the PLG gene were identified. The most common genetic alteration was a K19E mutation … |
| Anahtar Kelimeler |
Science Direct
BM Sürdürülebilir Kalkınma Amaçları
| Atıf Sayıları | |
| Google Scholar | 194 |
| Scopus | 24 |
| Web of Science | 138 |