Sentence examples for mutation segregating with from inspiring English sources

To identify possible mutations in the EDA gene, we first sequenced all eight exons coding for EDA in two affected males and two female carriers in Family A. We found a novel missense mutation c.947A>G in exon 9 of EDA, and found the mutation segregating with affected or carrier status in the other family members (Fig. 5).

No amino acid changing mutation segregating with the disease was identified.

We could identify a mutation segregating with DD in CEP63, a gene not implicated in DD previously.

We hypothesised that the dominant inheritance pattern of DD in the pedigree is due to a heterozygous DNA mutation segregating with DD in all affected individuals.

While this manuscript was under revision there was a report describing a family where a GATA4 missense mutation segregated with congenital heart disease and 46,XY DSD[58].

The EPOR G1251T mutation segregated with the polycythemic status, as demonstrated by the EPOR analysis of other family members (Figure 1B).

The mutation segregated with the disease phenotype of LMX1B nephropathy.

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.

This mutation segregated with the disease in the family (Fig.  1b) and was not seen in over 4,500 control individuals.

On the other hand, for the GRN g.10974_10975insCC insertion, we confirmed that this novel mutation segregates with disease status.