Genetic mapping and exome sequencing identify variants associated with five novel diseases. [electronic resource]
Producer: 20120709Description: e28936 p. digitalISSN:- 1932-6203
- Amino Acyl-tRNA Synthetases
- Amish -- genetics
- CRADD Signaling Adaptor Protein
- Child
- Child, Preschool
- Chromosome Mapping -- methods
- Dopamine Plasma Membrane Transport Proteins -- genetics
- Epilepsy -- genetics
- Ethnicity -- genetics
- Exome -- genetics
- Genetic Association Studies -- methods
- Genetic Predisposition to Disease -- genetics
- Humans
- Infant
- Infant, Newborn
- Intellectual Disability -- genetics
- Intracellular Signaling Peptides and Proteins -- genetics
- Membrane Transport Proteins -- genetics
- Microtubule-Associated Proteins -- genetics
- Nuclear Proteins -- genetics
- Parkinsonian Disorders -- genetics
- Polymorphism, Single Nucleotide
- RNA-Binding Proteins
- Receptors, Virus -- genetics
- Seizures -- genetics
- Sequence Analysis, DNA -- methods
- Usher Syndromes -- genetics
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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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