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.

Для цитирования: Ittiwut Chupong, Natesirinilkul Rungrote, Tongprasert Fuanglada, Sathitsamitphong Lalita, Choed-Amphai Chane, Fanhchaksai Kanda, Charoenkwan Pimlak, Suphapeetiporn Kanya, Shotelersuk Vorasuk. 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.. British journal of haematology. 2018. DOI: 10.1111/bjh.15559.