Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment. [electronic resource]
- Human molecular genetics Jun 2015
- 3172-80 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
1460-2083
10.1093/hmg/ddv069 doi
Adolescent Child Consanguinity Endoribonucleases--chemistry Female Genes, Recessive Genetic Association Studies Humans Intellectual Disability--genetics Male Mutation, Missense Pedigree Point Mutation Polymorphism, Single Nucleotide Protein Isoforms--genetics RNA Processing, Post-Transcriptional RNA Splice Sites RNA, Messenger--genetics Ribonucleoproteins, Small Nuclear--chemistry Young Adult