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New heterozygous variant in GP 1 BB gene is responsible for an inherited form of macrothrombocytopenia
Author(s) -
Ferrari Silvia,
Lombardi Anna M.,
Cortella Irene,
Businaro Maria A.,
Bertomoro Antonella,
Di Pasquale Irene,
Fabris Fabrizio
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.15176
Subject(s) - bernard–soulier syndrome , missense mutation , platelet disorder , exon , genetics , point mutation , gene , mutation , leucine rich repeat , platelet , platelet glycoprotein gpib ix complex , compound heterozygosity , platelet membrane glycoprotein , biology , medicine , microbiology and biotechnology , glycoprotein