A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism. [electronic resource]
Producer: 20170510Description: 506-522 p. digitalISSN:- 1537-6605
- Autism Spectrum Disorder -- genetics
- Carrier Proteins -- genetics
- Cells, Cultured
- Child
- Child, Preschool
- Codon -- genetics
- Developmental Disabilities -- genetics
- Exome
- Female
- Fibroblasts -- cytology
- Genetic Variation
- Hearing Loss -- genetics
- Humans
- Intellectual Disability -- genetics
- Male
- Microcephaly -- genetics
- Mutation
- Mutation, Missense
- Nuclear Proteins -- genetics
- Oxidative Stress
- Protein Biosynthesis -- genetics
- Ribosomal Proteins -- genetics
- Ribosomes -- genetics
- Sequence Alignment
- Sequence Analysis, DNA
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Publication Type: Journal Article
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