A birth of bipartite exon by intragenic deletion.

Kandai NozuKazumoto IijimaToru IgarashiShiro YamadaJana KralovicovaYoshimi NozuTomohiko YamamuraShogo MinamikawaIchiro MoriokaTakeshi NinchojiHiroshi KaitoKoichi NakanishiVorechovsky I

Published in: Molecular genetics & genomic medicine (2017)

These results expand the repertoire of mutational mechanisms that alter RNA processing in genetic disease and illustrate the extraordinary versatility of transposed elements in shaping the new exon-intron structure and the phenotypic variability.

Keyphrases

genome wide
gestational age
copy number
high throughput sequencing
gene expression
nucleic acid
pregnant women
pregnancy outcomes