Sentences with phrase «second disease allele»

However, it took whole - genome sequencing to identify the second disease allele, a heterozygous ~ 55 kb deletion spanning at least three other exons in the gene.

Not exact matches

Examples of compound heterozygous patients in which a second, presumed null allele is likely to contribute to disease outcome are provided above in comparison to corresponding homo - or hemizygous patients with the same causative allele.