Novel RHAG allele encoding the Rhnull phenotype in Brazil

Novel RHAG allele encoding the Rhnull phenotype in Brazil

Rhnull is a rare phenotype characterized by the loss of Rh antigen expression. This phenotype can be related to several molecular backgrounds. In this study, we show a novel allele in a Brazilian pregnant woman encoding the Rhnull phenotype due to a change in RHAG exon2 c.310C>T, which leads to a...

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Veröffentlicht in:Transfusion (Philadelphia, Pa.) Pa.), 2015-10, Vol.55 (10), p.2521-2522
Hauptverfasser: Arnoni, Carine Prisco, Muniz, Janaína Guilhem, Gazito, Diana, Person, Rosangela de Medeiros, Vendrame, Tatiane Aparecida de Paula, Castilho, Lilian, Latini, Flavia Roche Moreira
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Genotype & phenotype
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container_issue 10
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container_title Transfusion (Philadelphia, Pa.)
container_volume 55
creator Arnoni, Carine Prisco
Muniz, Janaína Guilhem
Gazito, Diana
Person, Rosangela de Medeiros
Vendrame, Tatiane Aparecida de Paula
Castilho, Lilian
Latini, Flavia Roche Moreira
description Rhnull is a rare phenotype characterized by the loss of Rh antigen expression. This phenotype can be related to several molecular backgrounds. In this study, we show a novel allele in a Brazilian pregnant woman encoding the Rhnull phenotype due to a change in RHAG exon2 c.310C>T, which leads to a premature stop codon (Gln104Stop).
doi_str_mv 10.1111/trf.13219
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subjects Genotype & phenotype
title Novel RHAG allele encoding the Rhnull phenotype in Brazil
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