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US 2013/0116149 A1Published application
Genetic Markers Associated with Intellectual Disability
AssigneeCentre for Addiction and Mental Health
InventorJohn B. Vincent
Life of this patent
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Abstract
Genetic markers associated with intellectual disability as well as compositions, methods and kits for screening for genetic markers intellectual disability, diagnosing intellectual disability and identifying individuals with a predisposition for offspring suffering from intellectual disability are provided.
Claims15
A genetic marker for intellectual disability comprising a mutant NSUN2 gene or a mutant polypeptide encoded thereby.
An isolated polynucleotide comprising:
- (a) a nucleic acid sequence of SEQ ID NO:2 or a fragment thereof;
- (b) a nucleic acid sequence encoding the amino acid sequence of SEQ ID NO:4 or a fragment thereof;
- (c) a nucleic acid sequence that selectively hybridizes to the nucleic acid sequence of (a) or (b);
- or
- (d) a nucleic acid sequence having at least 90% sequence identity to the nucleic acid molecule of (a).
2 more elements
An isolated polypeptide comprising the amino acid sequence of SEQ ID NO:4 or a fragment thereof.
Dependencies are inferred from the claim text.