EMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington disease
Huntington disease (HD) is caused by the expansion of an unstable polymorphic trinucleotide (CAG)n repeat in exon 1 of the HTT gene, which translates into an extended polyglutamine tract in the protein. Laboratory diagnosis of HD involves estimation of the number of CAG repeats. Molecular genetic te...
| Main Authors: | , , , , , |
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| Format: | Online |
| Language: | English |
| Published: |
Nature Publishing Group
2013
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3641377/ |