Many people diagnosed with Gillespie Syndrome have shown that there is a heterozygous mutation of the PAX6 gene.

It is caused by heterozygous mutations in UBIAD1 gene.

A heterozygous mutation is a mutation of only one allele.

Not all horses with the heterozygous mutation exactly fit the standard visual description.

Those with a heterozygous mutation for the CCR5 were less susceptible to the development of HIV.

Recently, homozygous or compound heterozygous mutations for ENPP1 gene were reported as causative for the disorder.

Here, the ability to detect heterozygous mutations is important and this can only be done if the sequence of the diploid genome is obtained.

Phenotypic expression is variable in patients carrying homozygous or heterozygous mutations of the CFTR gene.

Homozygous mutations increase the risk of thrombosis more than heterozygous mutations, but the relative increased risk is not well documented.

The hybridization results showed the expected significant differences in signal intensity between matched and mismatched duplexes, thus allowing reliable identification of both homozygous and heterozygous mutations.