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Novel mutations in SPTA 1 and SPTB identified by whole exome sequencing in eight Thai families with hereditary pyropoikilocytosis presenting with severe fetal and neonatal anaemia
Author(s) -
Ittiwut Chupong,
Natesirinilkul Rungrote,
Tongprasert Fuanglada,
Sathitsamitphong Lalita,
Choedamphai Chane,
Fanhchaksai Kanda,
Charoenkwan Pimlak,
Suphapeetiporn Kanya,
Shotelersuk Vorasuk
Publication year - 2019
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/bjh.15559
Subject(s) - spectrin , epb41 , exome sequencing , genetics , proband , mutation , biology , ankyrin , exome , membrane protein , gene , cytoskeleton , membrane , cell
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