Heterozygous PKLR c.1529G>A missense mutation and sole expression of the 1529A allele in the patient.

(A) PKLR DNA sequence analysis of exon 11 in the patient shows a heterozygous G>A substitution (arrow). The splice donor site of intron 11 is indicated. (B) RT-PCR analysis of the patient's RNA yielded only one transcript that contained the 1529A mutation (arrow), thereby indicating a severely reduced transcription of the in trans 1529G allele. Double horizontal arrows denote boundaries between exons.