Sentence examples for mutation had normal from inspiring English sources

In contrast to patients with other mutations, individuals homozygous for the ΔR608 mutation had normal height and weight, markedly less hepatosplenomegaly and bone age delay, and normal IGF-1 levels.

In fact, the 2 siblings bearing this mutation had normal glucose tolerance.

Mutation p.Thr168Ala has been described in patients affected by diabetes [32]; it greatly increased Vmax and resulted in a complete loss of cooperative behaviour associated with glucose binding, the 2 siblings bearing this mutation had normal glucose tolerance and impaired glycosylated hemoglobin.

In contrast, Lexicon's Plekhm1 mouse mutation had normal bone mass in the HTS with no evidence of osteopetrosis.

Family members who were heterozygous for the p.S1210P mutation had normal visual acuity and normal results of clinical evaluations.

In family 2 for instance, all the 3 sisters with the p.Thr146Arg mutation had normal cognitive abilities.

Human epilepsy patients with PK1 mutation have normal visual perception (Bassuk et al., 2008; Tao et al., 2011), yet we observe retinal defects in pk1a morphants.

Any polymerization defect resulting from the alanine substitution is apparently not severe enough to affect the essential role of Pol ε in cell viability, because a haploid yeast strain containing the pol2-Y831A mutation has normal growth characteristics [ 7].

This is not entirely surprising since heterozygous carriers of other PIG gene mutations had normal CD59 levels (37).

However, these mutations do not affect all functions of the Na+, K+ ATPase alpha protein since embryos homozygous for these mutations have normal septate junction paracellular barrier function and tracheal morphology.

Nine of 11 patients carrying OPA1 mutations inducing haploinsufficiency had normal hearing function.