Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes. [electronic resource]
Producer: 20150126Description: 565-78 p. digitalISSN:- 1537-6605
- Abnormalities, Multiple -- genetics
- Acyl-CoA Dehydrogenase, Long-Chain -- genetics
- Adaptor Proteins, Signal Transducing -- genetics
- Animals
- Apoptosis Regulatory Proteins
- Asialoglycoprotein Receptor -- genetics
- Base Sequence
- Cell Line
- Chromosome Breakpoints
- Chromosome Deletion
- Chromosomes, Human, Pair 17 -- genetics
- Dishevelled Proteins
- Flow Cytometry
- Gene Dosage -- genetics
- Humans
- Immunohistochemistry
- Intellectual Disability -- genetics
- Microcephaly -- genetics
- Microtubule-Associated Proteins -- genetics
- Molecular Sequence Data
- Phosphoproteins -- genetics
- Retrospective Studies
- Sequence Analysis, DNA
- Smith-Magenis Syndrome
- Syndrome
- Zebrafish
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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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