Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth. [electronic resource]
Producer: 20110919Description: 148-53 p. digitalISSN:- 1537-6605
- Cell Line
- Child, Preschool
- Cullin Proteins -- genetics
- Cytoskeletal Proteins -- genetics
- Dwarfism -- genetics
- Female
- Gene Expression
- Homozygote
- Humans
- Infant
- Intellectual Disability -- genetics
- Male
- Muscle Hypotonia -- genetics
- Mutation
- Reverse Transcriptase Polymerase Chain Reaction
- Spine -- abnormalities
- Transcription Factors
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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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