Title : EMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington disease.

Pub. Date : 2013 May

PMID : 22990145






1 Functional Relationships(s)
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1 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. trinucleotide huntingtin Homo sapiens