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. 2015 Oct;55(10):2521-2.
doi: 10.1111/trf.13219. Epub 2015 Jul 14.

Novel RHAG allele encoding the Rh(null) phenotype in Brazil

Carine Prisco Arnoni  1 , Janaína Guilhem Muniz  1 , Diana Gazito  1 , Rosangela de Medeiros Person  1 , Tatiane Aparecida de Paula Vendrame  1 , Lilian Castilho  2 , Flavia Roche Moreira Latini  1
Affiliations

Novel RHAG allele encoding the Rh(null) phenotype in Brazil

Carine Prisco Arnoni et al. Transfusion. 2015 Oct.

Abstract

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).

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