Shaheen, Ranad

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