A para‐Bombay phenotype due to compound heterozygosity involving a novel <scp> <i>FUT1</i> </scp> variant
We identified the FUT1*01W.31 allele in compound heterozygosity with a novel allele carrying the missense substitution c.521T>C as responsible for the para-Bombay phenotype. In silico studies support that the p.Phe174Ser gives rise to a weak FUT1 variant.
Authors
- Melina Luján Brajovich
- Marta Salgado
- Marshall Posner
- Carolina Trucco Boggione (ORCID: https://orcid.org/0000-0002-3167-6172)
- Elvio Rodríguez Araya (ORCID: https://orcid.org/0009-0005-1373-6265)
- Núria Nogués
- Cintia Príncipi (ORCID: https://orcid.org/0000-0001-8434-5206)
- Pamela Cribb (ORCID: https://orcid.org/0000-0001-6973-4019)
- Silvina Stettler
- Cecilia González
- Carlos Cotorruelo (ORCID: https://orcid.org/0000-0003-2289-3420)
Institutions
- National University of Rosario (AR)
- Centro Científico Tecnólogico - Rosario (AR)
- Instituto de Biología Molecular y Celular de Rosario (AR)
- Banc de Sang i Teixits (ES)
Publication Details
- Journal
- Vox Sanguinis
- Published
- 2025-10-12
- DOI
- https://doi.org/10.1111/vox.70128
- Primary Topic
- Blood groups and transfusion
- Type
- article
- Field-Weighted Citation Impact
- 0.00