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Did a single severe mutation misplace an eye, or did one eye migrate gradually over time?
REE (adjusted for FFM) was higher in children with a severe mutation (5495 ± 47 kJ) compared with a mild mutation (5176 ± 124 kJ, P <.02).
Remarkably, with the most severe mutation, global folding is more rapid than for the wild-type ribozyme and proceeds in a concerted fashion without the accumulation of long-lived kinetic intermediates.
In 663114, the dark waves of the tsunami are frightening and yet, when the cicada reemerges from the wreckage and radiation, it has undergone a severe mutation which has given it wings of rare beauty.
For instance, a severe mutation in the DAF-2/insulin receptor causes an L1 arrest, similar to that of wild type animals that hatch in the absence of food.
The specific sequencing of each gene showed the severe mutation on the CYP21A2 next to the TNXB gene, and the presence of a wild-type CYP21A2 next to the TNXA pseudogene.
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Abnormal glucose tolerance was associated exclusively with severe mutations and exocrine pancreatic insufficiency.
The genetic dominance of these mutations suggests that less severe mutations will contribute to phenotypic variation in human neuronally derived traits.
The authors wanted to investigate whether additional, more severe, mutations in the 11-cis retinol dehydrogenase gene might be responsible for more severe forms of hereditary retinal diseases.
Conclusions PI, severe mutations, and female sex are the main contributing factors to elevated REE in patients with CF with near normal pulmonary function.(J Pediatr 2003 142 15-9).
We used a longitudinal design to determine whether normalisation of growth could be found in the genetic subgroup of prepubertal children with CF with the homozygous ΔF508 mutation, which is one of the known severe mutations.
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