Family study results of the anti-PP1Pk family. (A) P1 phenotype pedigree based on standard serologic method. The proband is indicated by an arrow. (B) Sequencing results were determined on the basis of the combined data from PCR and sequencing of A4GALT gene. The affected individuals (II-1, II-4) were homozygous for c.1029dupC. The carrier individual (II-3) was heterozygous for c.1029dupC but also carried another allele with a combined normal.

Abbreviation: dup, duplication.