Multiple miscarriages in two sisters of Thai origin with the rare Pk phenotype caused by a novel nonsense mutation at the B3GALNT1 locus.
J Ricci HagmanAnnika K HultJ S WestmanB Hosseini-MaafP JongruamklangJ SaipinS BejrachandraM L OlssonPublished in: Transfusion medicine (Oxford, England) (2018)
We describe a novel nonsense mutation (c.420T>G) in B3GALNT1 (GLOB*01N·13), which was added to the 12 alleles already known in the GLOB system.
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