A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism. [electronic resource]
Producer: 20100506Description: 81-90 p. digitalISSN:- 1468-6244
- Amino Acid Substitution
- Autistic Disorder -- genetics
- Child
- Child, Preschool
- Comparative Genomic Hybridization
- DNA Mutational Analysis
- Databases, Genetic
- Female
- Genetic Predisposition to Disease
- Humans
- Male
- Membrane Transport Proteins -- genetics
- Mutation, Missense
- Nerve Tissue Proteins -- genetics
- Sequence Deletion
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Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural
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