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

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作者单位: Division of Paediatric Haematology and Oncology, Department of Paediatrics, Faculty of Medicine, Erciyes University, Kayseri, Türkiye. [1] Division of Paediatric Haematology and Oncology, Department of Paediatrics, Faculty of Medicine, Çukurova University, Adana, Türkiye. [2] Department of Paediatric Haematology and Oncology, Ankara Bilkent City Hospital, University of Health Sciences, Ankara, Türkiye. [3] Division of Paediatric Haematology and Oncology, Department of Paediatrics, Faculty of Medicine, Uludağ University, Bursa, Türkiye. [4] Department of Medical Genetics, Faculty of Health Sciences, Kayseri City Hospital, Kayseri, Türkiye. [5] Department of Medical Genetics, Faculty of Medicine, Cukurova University, Adana, Türkiye. [6] Adana Genetic Diseases Diagnosis and Treatment Center (AGENTEM), Cukurova University, Adana, Türkiye. [7] Division of Paediatric Haematology and Oncology, Department of Paediatrics, Faculty of Medicine, Gaziantep University, Gaziantep, Türkiye. [8] Division of Paediatric Haematology and Oncology, Department of Paediatrics, Meram Faculty of Medicine, Necmettin Erbakan University, Konya, Türkiye. [9] Department of Paediatric Haematology and Oncology, Faculty of Health Sciences, Adana City Hospital, Adana, Türkiye. [10] Department of Medical Genetics, Faculty of Medicine, Uludag University, Bursa, Türkiye. [11] Department of Paediatric Bone Marrow Transplantation, Adana Acıbadem Hospital, Adana, Türkiye. [12] Department of Paediatric Haematology and Oncology, Faculty of Health Sciences, Kayseri City Hospital, Kayseri, Türkiye. [13] Department of Paediatric Genetic, Faculty of Health Sciences, Kayseri City Hospital, Kayseri, Türkiye. [14] Department of Paediatric Haematology and Oncology, Faculty of Medicine, Ankara Yıldırım Beyazıt University, Ankara, Türkiye. [15] Department of Paediatric Haematology and Oncology, Faculty of Medicine, KTO Karatay University, Konya, Türkiye. [16] Department of Histology, Faculty of Medicine, Uludağ University, Bursa, Türkiye. [17] Department of Haematology, Oxford University Hospitals NHS Foundation Trust, Oxford, UK. [18] Department of Medical Biology, Faculty of Medicine, Erciyes University, Kayseri, Türkiye. [19] Department of Medical Biochemistry, Faculty of Medicine, Erciyes University, Kayseri, Türkiye. [20] Drug Application and Research Center, Erciyes University, Kayseri, Türkiye. [21] Molecular Biology and Genetics Department, Genome and Stem Cell Centre (GENKOK), Gevher Nesibe Genom and Stem Cell Institution, Erciyes University, Kayseri, Türkiye. [22] Molecular Haematology Laboratory, Oxford University Hospitals NHS Foundation Trust, Oxford, UK. [23] Medical Point Hospital, Paediatric Haematology and Oncology Clinic, Gaziantep, Türkiye. [24] School of Health Sciences, Hasan Kalyoncu University, Gaziantep, Türkiye. [25]
DOI 10.1111/bjh.19575
PMID 38811201
发布时间 2024-07-12
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British journal of haematology

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