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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.

Chupong IttiwutRungrote NatesirinilkulFuanglada TongprasertLalita SathitsamitphongChane Choed-AmphaiKanda FanhchaksaiPimlak CharoenkwanKanya SuphapeetipornVorasuk Shotelersuk
Published in: British journal of haematology (2018)
Keyphrases
  • early onset
  • case report
  • iron deficiency