Sentence examples for mutation with incomplete from inspiring English sources

We considered that Patient II-1 possessed a heterozygous mutation with incomplete penetrance.

The 5T polymorphism is considered now to be a mutation with incomplete penetrance [ 12].

Although the genes involved have not been identified so far, the current hypothesis is that the disease is due a single autosomal recessive mutation with incomplete penetrance [ 2].

Mutations with incomplete penetrance, mutations in novel genes with unknown function, and genetic variants responsible for very small increases in disease risk are typical challenging examples.

Mutations in the RET gene, associated with isolated Hirschsprung disease, are dominant loss-of-function mutations with incomplete penetrance and variable expressivity.

20 In general, presymptomatic diagnosis is not advisable, as its interpretation is inconclusive, may be complicated for mutations with incomplete penetrance and it usually does not call for medical intervention.

A major challenge faced by doctors caring for patients and family members with suspected sarcomeric cardiomyopathies is how to establish causality of a specific gene mutation, especially with incomplete penetrance and asymptomatic young patients so typical of HCM.

Otterson et al., [23] demonstrated a link between partial loss of function mutations in RB1 with incomplete penetrance.

Recently, position p.Arg415 of Atlastin-1 (SPG3A) was shown to be a hotspot for missense mutations, first associated with incomplete penetrance with an AD inheritance pattern (D'Amico et al. 2004), and then with AR transmission (Varga et al. 2013) (Khan et al. 2014).

Not only does the biology of Cox-2 in kidney development support our hypothesis that these promoter allelic variants are responsible for RD in dogs, but the fact that the mutations are located just upstream of the ATG translation start site justifies the mode of inheritance strengthens our argument as mutations that are dominant with incomplete penetrance, can be mutations in regulatory sequences.

If the clinical data associated with a mutation were incomplete the association with ccRCC was documented as 'unknown'unknown