Adult-Onset Congenital Thrombotic Thrombocytopenic Purpura Associated With a Novel ADAMTS13 Nonsense Variant (c.4192C>T; p.Gln1398Ter)

Çatma, Yunus; Timuroğlu, Aysu; Yenerel, Mustafa Nuri

Adult-Onset Congenital Thrombotic Thrombocytopenic Purpura Associated With a Novel ADAMTS13 Nonsense Variant (c.4192C>T; p.Gln1398Ter) [Turk J Hematol]

Turk J Hematol. Ahead of Print: TJH-97059 | DOI: 10.4274/tjh.galenos.2026.97059

Adult-Onset Congenital Thrombotic Thrombocytopenic Purpura Associated With a Novel ADAMTS13 Nonsense Variant (c.4192C>T; p.Gln1398Ter)

Yunus Çatma¹, Aysu Timuroğlu², Mustafa Nuri Yenerel³
¹Kars Harakani State Hospital, Clinic of Hematology, Kars, Türkiye
²Erzurum City Hospital, Clinic of Hematology, Erzurum, Türkiye
³İstanbul University, İstanbul Faculty of Medicine, Department of Internal Medicine, Division of Hematology, İstanbul, Türkiye

Keywords: Thrombotic thrombocytopenic purpura, ADAMTS13 protein, Upshaw-Schulman syndrome, Congenital, Thrombotic microangiopathies, Mutation

Yeni Bir ADAMTS13 Nonsens Varyantı (c.4192C>T; p.Gln1398Ter) ile İlişkili Erişkin Başlangıçlı Konjenital Trombotik Trombositopenik Purpura

Yunus Çatma¹, Aysu Timuroğlu², Mustafa Nuri Yenerel³
¹Kars Harakani Devlet Hastanesi, Hematoloji, Kars Türkiye
²Erzurum Şehir Hastenesi, Hematoloji, Erzurum, Türkiye
³İstanbul Üniversitesi, İstanbul Tıp Fakültesi, İç Hastalıkları Anabilim Dalı Hematoloji Bilim Dalı,İstanbul, Türkiye

Anahtar Kelimeler: Trombotik trombositopenik purpura, ADAMTS13 proteini, Upshaw-Schulman sendromu, Mutasyon

Corresponding Author: Yunus Çatma, Türkiye
Manuscript Language: English

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