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  • Molecular assay reagents intended to identify CTG repeats in the junctophilin 3 (JPH3) gene, located at chromosome 16q24.3. Normal alleles have from 6 to 28 CAG/CTG trinucleotide repeats. A variation from the expected number of normal CAG/CTG trinucleotide repeat copies may produce altered DNA and improper gene functioning, resulting in full mutation. Alleles with from 44 to 59 CAG/CTG trinucleotide repeats have been associated with Huntingdon\'s disease type 2 (HDL2); however, individuals with from 29 to 43 CAG/CTG repeats may not develop symptoms.
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