Sentence examples for mild clinical phenotype from inspiring English sources

For the homozygous 157C>T mutation, reported earlier by [14] [16] to result in a mild clinical phenotype, enzymatic analysis now revealed that this mutation leads to 9.3% residual MCAD activity.

The problems may arise when a mutation causes disease only in the presence of an additional factor, or when it only causes a mild clinical phenotype as it occurs in our patient.

These deliberations were tempered by the lack of convincing cytogenetic data and the mild clinical phenotype.

The prominent limitation of this model, however, is its very mild clinical phenotype.

Monogenic diabetes caused by mutations in the glucokinase gene (GCK-MODY) is usually characterized by a mild clinical phenotype.

Characterization of the entire clade 3 PaLoc revealed a novel clade-wide 9-kb insertion (fig. 6), which may contribute to the relatively mild clinical phenotype of this clade (Walker et al. 2013).

Another consideration is that mild clinical phenotypes may delay presentation.

In myotonic dystrophy type 1, the classic disease range of CTG repeat numbers is 50 4000, in which repeat sizes of 50 80 may be associated with mild clinical phenotypes, and large repeat expansions up to 4000 are often found in severe, mostly congenital forms of the disorder.

Further research should focus on defining the phenotype / genotype relationships in South African patients to determine whether a milder clinical phenotype in S135L homozygotes does occur.

Nielsen et al. (2009) recently reported finding that MAP patients homozygous for a p.G368D allele have a milder clinical phenotype than MAP patients homozygous for a p.Y151C allele.

About 10 15% of patients exhibit a much milder clinical phenotype and survive to adulthood but develop progressive and often fatal neurological dysfunction.