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Targeted next generation sequencing identifies a novel β‐spectrin gene mutation A2059P in two Omani children with hereditary pyropoikilocytosis
Author(s) -
AlRiyami Arwa Z.,
Iolascon Achille,
AlZadjali Shoaib,
Andolfo Immacolata,
AlMammari Sahima,
Manna Francesco,
Al Rawas AbdulHakim,
King MayJean,
Russo Roberta
Publication year - 2017
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.24853
Subject(s) - spectrin , proband , genetics , epb41 , allele , biology , hemolytic anemia , hereditary spherocytosis , exon , gene , mutation , medicine , microbiology and biotechnology , immunology , cell , cytoskeleton