Article
FY*A silencing by the GATA-motif variant FY*A(-69C) in a Caucasian family.
Transfusion - 1 Nov 2015
Písačka Martin, Marinov Iuri, Králová Miroslava, Králová Jana, Kořánová Michaela, Bohoněk Miloš, Sood Chhavi, Ochoa-Garay Gorka
Abstract excerpt
BACKGROUND: The c.1-67C variant polymorphism in a GATA motif of the FY promoter is known to result in erythroid-specific FY silencing, that is, in Fy(a-) and Fy(b-) phenotypes. A Caucasian donor presented with the very rare Fy(a-b-) phenotype and was further investigated. STUDY DESIGN AND METHODS: Genomic DNA was analyzed by sequencing to identify the cause of the Fy(a-b-) phenotype. Samples were collected from...
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