Sentence examples for mutation segregated completely from inspiring English sources

In this family the ATXN3 mutation segregated completely with the suggestive PD phenotype.

The mutation segregated almost completely in all mutation-positive families.

Pedigrees 6, 7 and 8 all carry the same KLHL3 p.L387P mutation that segregates completely with an FHHt phenotype, raising the question whether these families have a common founder.

As expected from linkage and IBD studies, the only variant which segregated completely with disease was the c.746G>A; p.R249Q LMX1B variant.

The mutation segregated with the disease phenotype of LMX1B nephropathy.

The mutation segregated in the family (Fig.  1B).

Six probands carried known mutations, whereas a novel p.Thr2457AlafsX27 mutation segregated in family LCA-JS-2.

The mutation segregated in an autosomal recessive inherited manner in the pedigree.

Further testing found that the mutation segregated with breast cancer in these families.

The mutation segregated with phenotype in the three families in whom unaffected members were available.

Moreover, implementation of CHEK2 genotyping (and especially presymptomatic testing of relatives) is complicated by the observation that in breast cancer families the breast cancer risk does not segregate completely with the presence or absence of the 1100delC mutation (The CHEK2 Breast Cancer Case-Control Consortium, 2004).