INVESTIGADORES
COTORRUELO Carlos Miguel
artículos
Título:
Weak D antigen expression caused by a novel RHD allele in Argentineans
Autor/es:
TRUCCO BOGGIONE C; LUJÁN BRAJOVICH M; GASPARDI A; SIPPERT E; MATTALONI S; LERI M; BIONDI C; CASTILHO L; COTORRUELO C
Revista:
TRANSFUSION
Editorial:
WILEY-BLACKWELL PUBLISHING, INC
Referencias:
Lugar: Londres; Año: 2016 vol. 56 p. 2895 - 2896
ISSN:
0041-1132
Resumen:
RHD polymorphism shows substantial ethnic variability. In this study, we report the novel RHD exon 3 c.359C>A mutation responsible for the amino acid change p.Ala120Asp found in 28 individuals from Argentina with weak D antigen expression. The RHD*359A allele was only encountered in samples with ccEe phenotype suggesting a genetic cis association between this new RHD variant and the RHcE allele.
