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Akademický článek

Pyruvate kinase deficiency in 29 Turkish patients with two novel intronic variants.

Autor: Gök V; Division of Paediatric Haematology and Oncology, Department of Paediatrics, Faculty of Medicine, Erciyes University, Kayseri, Türkiye., Leblebisatan G; Division of Paediatric Haematology and Oncology, Department of Paediatrics, Faculty of Medicine, Çukurova University, Adana, Türkiye., Gürlek Gökçebay D; Department of Paediatric Haematology and Oncology, Ankara Bilkent City Hospital, University of Health Sciences, Ankara, Türkiye., Güler S; Division of Paediatric Haematology and Oncology, Department of Paediatrics, Faculty of Medicine, Uludağ University, Bursa, Türkiye., Doğan ME; Department of Medical Genetics, Faculty of Health Sciences, Kayseri City Hospital, Kayseri, Türkiye., Tuğ Bozdoğan S; Department of Medical Genetics, Faculty of Medicine, Cukurova University, Adana, Türkiye.; Adana Genetic Diseases Diagnosis and Treatment Center (AGENTEM), Cukurova University, Adana, Türkiye., Koca Yozgat A; Department of Paediatric Haematology and Oncology, Ankara Bilkent City Hospital, University of Health Sciences, Ankara, Türkiye., Özcan A; Division of Paediatric Haematology and Oncology, Department of Paediatrics, Faculty of Medicine, Erciyes University, Kayseri, Türkiye., Pekpak Şahinoğlu E; Division of Paediatric Haematology and Oncology, Department of Paediatrics, Faculty of Medicine, Gaziantep University, Gaziantep, Türkiye., Tokgöz H; Division of Paediatric Haematology and Oncology, Department of Paediatrics, Meram Faculty of Medicine, Necmettin Erbakan University, Konya, Türkiye., Çil M; Department of Paediatric Haematology and Oncology, Faculty of Health Sciences, Adana City Hospital, Adana, Türkiye., Özemri Sağ Ş; Department of Medical Genetics, Faculty of Medicine, Uludag University, Bursa, Türkiye., Yilmaz E; Division of Paediatric Haematology and Oncology, Department of Paediatrics, Faculty of Medicine, Erciyes University, Kayseri, Türkiye., Şaşmaz Hİ; Division of Paediatric Haematology and Oncology, Department of Paediatrics, Faculty of Medicine, Çukurova University, Adana, Türkiye.; Department of Paediatric Bone Marrow Transplantation, Adana Acıbadem Hospital, Adana, Türkiye., Evim MS; Division of Paediatric Haematology and Oncology, Department of Paediatrics, Faculty of Medicine, Uludağ University, Bursa, Türkiye., Akbayram S; Division of Paediatric Haematology and Oncology, Department of Paediatrics, Faculty of Medicine, Gaziantep University, Gaziantep, Türkiye., Karadoğan M; Department of Paediatric Haematology and Oncology, Faculty of Health Sciences, Kayseri City Hospital, Kayseri, Türkiye., Mutlu FT; Department of Paediatric Haematology and Oncology, Faculty of Health Sciences, Kayseri City Hospital, Kayseri, Türkiye., Boğa İ; Department of Medical Genetics, Faculty of Medicine, Cukurova University, Adana, Türkiye.; Adana Genetic Diseases Diagnosis and Treatment Center (AGENTEM), Cukurova University, Adana, Türkiye., Yeter Doğan B; Department of Paediatric Genetic, Faculty of Health Sciences, Kayseri City Hospital, Kayseri, Türkiye., Yarali N; Department of Paediatric Haematology and Oncology, Faculty of Medicine, Ankara Yıldırım Beyazıt University, Ankara, Türkiye., Çalişkan Ü; Division of Paediatric Haematology and Oncology, Department of Paediatrics, Meram Faculty of Medicine, Necmettin Erbakan University, Konya, Türkiye.; Department of Paediatric Haematology and Oncology, Faculty of Medicine, KTO Karatay University, Konya, Türkiye., Bişgin A; Department of Medical Genetics, Faculty of Medicine, Cukurova University, Adana, Türkiye.; Adana Genetic Diseases Diagnosis and Treatment Center (AGENTEM), Cukurova University, Adana, Türkiye., Temel ŞG; Department of Medical Genetics, Faculty of Medicine, Uludag University, Bursa, Türkiye.; Department of Histology, Faculty of Medicine, Uludağ University, Bursa, Türkiye., Proven M; Department of Haematology, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Gibson K; Department of Haematology, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Demir BŞ; Department of Medical Biology, Faculty of Medicine, Erciyes University, Kayseri, Türkiye., Saraçoğlu H; Department of Medical Biochemistry, Faculty of Medicine, Erciyes University, Kayseri, Türkiye.; Drug Application and Research Center, Erciyes University, Kayseri, Türkiye., Eken A; Department of Medical Biology, Faculty of Medicine, Erciyes University, Kayseri, Türkiye.; Molecular Biology and Genetics Department, Genome and Stem Cell Centre (GENKOK), Gevher Nesibe Genom and Stem Cell Institution, Erciyes University, Kayseri, Türkiye., Karakükçü Ç; Department of Medical Biochemistry, Faculty of Medicine, Erciyes University, Kayseri, Türkiye.; Drug Application and Research Center, Erciyes University, Kayseri, Türkiye., Karakükçü M; Division of Paediatric Haematology and Oncology, Department of Paediatrics, Faculty of Medicine, Erciyes University, Kayseri, Türkiye., Güneş AM; Division of Paediatric Haematology and Oncology, Department of Paediatrics, Faculty of Medicine, Uludağ University, Bursa, Türkiye., Özbek NY; Department of Paediatric Haematology and Oncology, Ankara Bilkent City Hospital, University of Health Sciences, Ankara, Türkiye., Kilinç Y; Division of Paediatric Haematology and Oncology, Department of Paediatrics, Faculty of Medicine, Çukurova University, Adana, Türkiye., Patiroğlu T; Division of Paediatric Haematology and Oncology, Department of Paediatrics, Faculty of Medicine, Erciyes University, Kayseri, Türkiye., Özdemir MA; Division of Paediatric Haematology and Oncology, Department of Paediatrics, Faculty of Medicine, Erciyes University, Kayseri, Türkiye., Roy NBA; Department of Haematology, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Molecular Haematology Laboratory, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Ünal E; Division of Paediatric Haematology and Oncology, Department of Paediatrics, Faculty of Medicine, Erciyes University, Kayseri, Türkiye.; Medical Point Hospital, Paediatric Haematology and Oncology Clinic, Gaziantep, Türkiye.; School of Health Sciences, Hasan Kalyoncu University, Gaziantep, Türkiye.

Publikováno v: British journal of haematology [Br J Haematol] 2024 Jul; Vol. 205 (1), pp. 236-242. Date of Electronic Publication: 2024 May 29.

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