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The novel RHD c.325A>G single nucleotide variation found in Argentineans leads to a partial D phenotype.

Transfusion - 1 Nov 2020

Mufarrege Nicolás, Trucco Boggione Carolina, Puppo Mónica, Ensinck Alejandra, Príncipi Cintia, Brajovich Melina Luján, Mattaloni Stella, Biondi Claudia, Kuperman Silvina, Cotorruelo Carlos

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PMID: 32924170
DOI: 10.1111/trf.16050

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The novel RHD c.325A>G single nucleotide variation found in Argentineans leads to a partial D phenotype.PMID 32924170Read ↗

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The c.254C>A change (p.Ala85Glu) in RHD causing a weak D phenotype.Semantic proximity Read ↗

An intron c.149-2632T>A change in RHD is associated with aberrant transcription and very weak D phenotype.Semantic proximity Read ↗

A novel RHD (c.509T>G, p.Met170Arg) allele shows weakened D expression.Semantic proximity Read ↗

Weak D antigen expression caused by a novel RHD allele in Argentineans.Semantic proximity Read ↗

Identification of a novel missense mutation (p.Ser230Asn) in RHD allele in a Chinese individual with partial D phenotype.Semantic proximity Read ↗

Molecular characterization of three novel RHD alleles in Brazilians.Semantic proximity Read ↗

Novel RHD allele with c.333C>G change predicted to encode p.Phe111Leu.Semantic proximity Read ↗

A new RHD variant allele (RHD Gly339Val) shows weakened D expression compared to RHD Gly339Glu and Gly339Arg mutants.Semantic proximity Read ↗

A novel RHD allele caused by c.767 C>T mutation was identified in a Chinese individual.Semantic proximity Read ↗

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A null allele caused by a four-base-pair duplication within the RHCE gene encoding a D- - phenotype.Semantic proximity Read ↗

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