Sentence examples for mutations on both from inspiring English sources

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].

The assay qualitatively reproduces the effects of complexin-1 and key mutations on both spontaneous release and evoked release that have been observed in cortical neuronal cultures.

Mutations on both alleles of RPE65 result in absent or largely decreased formation of rhodopsin, due to a defect in all-trans retinol isomerization in the RPE.

However, the abundance of HCV RNA carrying mutations on both miR-122-binding sites and whose stability was supported by ectopically expressed miR-122 mimetics with compensatory mutations also decreased in Rab27a-depleted cells.

This study was conducted to evaluate fundus autofluorescence in patients with early-onset severe retinal dystrophy (EOSRD, or early-onset rod cone dystrophy) associated with mutations on both alleles of RPE65.

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

If the father had had both mutations on one copy of NPHS2 (in cis) while the other copy was 'mutation free', then that may also have explained why his daughter had inherited both mutations from him.

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.

> -wrap-foot> In figure 4, results with numbers of mutations between generations show the expected number of mutations based on both the mutation rate and the generation time.

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.