Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice. [electronic resource]
- American journal of human genetics Apr 2016
- 643-52 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
1537-6605
10.1016/j.ajhg.2016.02.010 doi
Abnormalities, Multiple--genetics Adult Alleles Amino Acid Sequence Animals Case-Control Studies Child Child, Preschool Codon, Nonsense Female Gene Expression Profiling Gene Expression Regulation Humans Intracellular Signaling Peptides and Proteins Male Mice Molecular Sequence Data Mutation Nonsense Mediated mRNA Decay--genetics Pedigree Phosphoproteins--genetics Phosphorylation Polymorphism, Single Nucleotide RNA, Messenger Saudi Arabia