Diseases transmitted in a dominant fashion and associated with aggregation-prone polymorphisms that are not subject to NMD.
By Craig Alan Gough (297340), Keiichi Homma (2985), Yumi Yamaguchi-Kabata (2980), Makoto K. Shimada (270153), Ranajit Chakraborty (3102), Yasuyuki Fujii (3005), Hisakazu Iwama (297341), Shinsei Minoshima (3054), Shigetaka Sakamoto (3072), Yoshiharu Sato (297342), Yoshiyuki Suzuki (3000), Masahito Tada-Umezaki (297343), Ken Nishikawa (3103), Tadashi Imanishi (2973) and Takashi Gojobori (2581)
Abstract
a<p>The numbers of nonsense SNPs and indels that were annotated in this study are shown.</p>b<p>This is a frameshifting indel.</p>c<p>Disease information from OMIM is shown (MIM number in parentheses).</p
Topics:
Biophysics, Biochemistry, Genetics, Biological Sciences, transmitted, aggregation-prone, polymorphisms
Year: 2013
DOI identifier: 10.1371/journal.pone.0050445.t002
OAI identifier:
oai:figshare.com:article/207727
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