Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment. [electronic resource]
Producer: 20160216Description: 3172-80 p. digitalISSN:- 1460-2083
- 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
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Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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