Sentence examples for mutation on both from inspiring English sources

CF is caused by mutations in a single gene (CFTR); however more than 1500 different changes in this one gene can cause CF. Because a patient must carry a mutation on both copies of their CFTR gene to have CF they frequently have two different mutations (compound heterozygosity), making prognostication difficult since genotype-phenotype correlations are limited.

In cases 18, 24, 26 28 a FAOD was clinically suspected but the subjects turned out not to carry a mutation on both ACADM alleles.

Homozygous (C/C) animals exhibit a cis effect of the mutation on both the paternal and maternal allele-specific genes, however, the paternal allele specific genes are expressed at a lower level than in callipyge (+/CPat) lambs [10], [18].

(F ) Effect of expression of active SRC (SrcE-mcherry, containing the E378G mutation) or inactive SRC (SrcK-mcherry, containing the K295M mutation) on both proteins.

Furthermore, albeit speculation at present, Kashir et al. (2012) hypothesised that mutations in PLCζ may be recessive in nature, requiring mutation on both parental alleles for full infertility to occur.

But the lesser effects of the mutation on both dephospho analogues is intriguing because R504 has not been reported to interact with the 1-phosphate of IP3 (Bosanac et al., 2002).

The phenotypic effects of random mutations depend on both the architecture of the genome and the gene trait relationships.

Patients with NC form of 21-OHD are predicted to have mild mutations on both alleles, or one severe and one mild mutation of CYP21A2 (compound heterozygotes) [ 13].

One patient with LDLR-negative mutations on both alleles and one patient with ARH did not respond to evolocumab; a slight increase in LDL-C levels compared with baseline was observed [ 49].

We investigated the cellular effects of the S81L mutation on AGT-Ma both in conditions mimicking a homozygous patient and in conditions mimicking a compound heterozygous patient bearing the G170R mutation on AGT-Mi in the second allele.

But all of the deaf children carried mutations on both copies of the gene.