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Congenital thrombotic thrombocytopenic purpura with novel mutations in three unrelated turkish children
Authors:Ayse Metin MD  PhD  Sule Unal MD  Fatma Gümrük MD  Roberta Palla PhD  Andrea Cairo MD  Mary Underwood MD  Aytemiz Gurgey MD
Affiliation:1. Division of Pediatric Immunology and Allergy, Ankara Children's Hematology Oncology Training and Research Hospital, Ministry of Health, , Ankara, Turkey;2. Division of Pediatric Hematology, Hacettepe University, , Ankara, Turkey;3. Dipartimento di Fisiopatologia Medico‐Chirurgica e dei Trapianti, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Università degli Studi di Milano, , Milan, Italy;4. Luigi Villa Foundation, , Milan, Italy;5. Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, , Milan, Italy;6. Haemostasis Research Unit, Department of Haematology, University College London, , London, UK
Abstract:
Keywords:ADAMTS13 deficiency  ADAMTS13 mutation  c.1308G>  C  c.428T>  C  c.1709A>  G mutations  thrombotic thrombocytopenic purpura  congenital TTP  Upshaw–  Schulman syndrome
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