Significats de identified mutation en anglès

Methods: Effects of the identified mutation were characterized using in vitro and in vivo studies.

The relatives of a proband harboring the identified mutation and 200 unrelated control individuals were genotyped.

Functional properties of the identified mutation were studied in transfected mouse ltk- cells using whole cell patch clamp techniques.

One previously identified mutation was also found (p.Pro131Leu in exon 5).

We compared the gene score distribution among patients with familial hypercholesterolaemia with no confirmed mutation, those with an identified mutation, and controls from WHII.

Materials and methods: Molecular analysis was performed on 35 children, both symptomatic and asymptomatic, who were family members of probands with a previously identified mutation.

In addition to the Erasmus study, scientists at the University of Wisconsin, Madison, have identified mutation that can make H5N1 transmissible from person to person.