Novel mutations in SPTA1 and SPTB identified by whole exome sequencing in eight Thai families with hereditary pyropoikilocytosis presenting with severe fetal and neonatal anaemia

بواسطة Chupong Ittiwut, Rungrote Natesirinilkul, Fuanglada Tongprasert, Lalita Sathitsamitphong, Chane Choed-amphai, Kanda Fanhchaksai, Pimlak Charoenkwan, Kanya Suphapeetiporn, Vorasuk Shotelersuk
منشور في 2018