Presentation Information
[O17-1]Short- and Long-read sequencing successfully determined pathogenic variants in all 35 congenital hemophilia A families
Yuri Uchiyama1,2, Yoshiyuki Ogawa3, Kunio Yanagisawa4,5, Akira Matsumoto3, Hideki Uchiumi3, Naomi Tsuchida1,2, Kohei Hamanaka2, Eriko Koshimizu2, Atsushi Fujita2, Satoko Miyatake2,6, Takeshi Mizuguchi2, Naomichi Matsumoto1,2,6 (1.Department of Rare Disease Genomics, Yokohama City University Hospital, 2.Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3.Department of Hematology, Gunma University Graduate School of Medicine, 4.Infection Control and Prevention Center, Gunma University Hospital, 5.Division of Internal Medicine, Fukaya Red Cross Hospital, Fukaya, Japan, 6.Department of Clinical Genetics, Yokohama City University Hospital)
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