Sentence examples for be a milder mutation from inspiring English sources
This is assumed to be a milder mutation that retains sensitivity to diazoxide.
For example, the c.199T > C mutation has been widely reported in screen-identified cases of MCADD but not in clinically diagnosed cases, and both in vitro and in vivo studies suggest that it is predicted to be a "mild" mutation; yet it cannot be ruled out as potentially conferring risk of metabolic decompensation [ 11, 12, 14].
The p.D444H mutation alone is a "milder" mutation and in combination with a mutation for profound BD on the other allele results in partial BD.
It is either another example of disease anticipation as previously observed in families with TERC mutations, as the 2 children have developed disease at a younger age than their father, or Arg282Cys is a milder mutation, and individuals with this variant survive long enough to have children.
"This is a milder disease".
The cases with milder LGMD without brain involvement have either a homozygous in-frame deletion of a single amino acid in exon 9 (p.V372del) (Cases 1, 2 and 3) or are compound heterozygous for a mild mutation and a stop mutation in exon 9 (Cases 5 and 7).
