Sentence examples for described a duplication from inspiring English sources

We recently described a duplication of four nucleotides in the first exon of β-globin gene in several families of patients living in Nord-Pas-de-Calais (France).

Other authors, using synonymous substitution rates between conserved gene pairs for dating, described a duplication of 5.44 (chromosome 11) and 4.27 Mbp (chromosome 12) 5MYA [ 8], 3.3 Mbp 7.7MYA [ 16], 3.3 Mbp 20MYA [ 17] or 6.5 and 4.8 Mbp 21MYA [ 13], while Goff et al. [ 18] calculated 25MYA using protein/protein alignments.

Our study is the first report describing a duplication of NRXN1 in an AD case.

With one exception, all rearrangements reported thus far are single or multiple exon deletions, whereas only one report has described a large duplication.

Interestingly, dominant mutations of REEP1 lead to autosomal-dominant hereditary spastic paraplegia, and a recent study described a similar duplication involving exons 2 7 as part of the mutational spectrum of this gene.

This work described a repeated gene duplication cassette containing a miRNA and four repeats that resemble a miRNA cluster on Chr19.

Finally, we observed that allelic ratios poorly differentiate between certain types of CNVs: for example, as further described below, a duplication of a paternally inherited allele results in extremely similar allelic ratios to deletion of a maternally inherited one.

In particular, Jones et al (2008) focused on JPA and describe a tandem duplication at 7q34 producing a transforming BRAF fusion gene in 29 of 44 tumours (66%), and V600E point mutation of BRAF in two further cases.

Here, we described a de novo exonic duplication of ATP1A2 in an Italian patient with Hemiplegic Migraine.

Huang et al. [ 17] described a three amino acid RRAS2 duplication (Gly24_26dup) in the human uterine leiomyosarcoma cell line ST-UT-1; this mutation resulted in enhanced GTP-binding and conferred transforming activity in vitro.

We describe an extensive duplication within the murine Rhox cluster consisting of eight tandem repeats of a 40 kilobase (kb) unit containing Rhox2, 3 and 4 potentially increasing the number of Rhox genes in this cluster to thirty-two.