Title : Clinical manifestations and gene mutation in a case of Machado-Joseph disease.

Pub. Date : 2012 Dec 15

PMID : 25317135






2 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 Gene analysis showed abnormal amplification of the CAG trinucleotide repeat in exon 10 of the ataxin-3 (ATXN3) gene, resulting in 70-81 CAG repeats in the patient, with a significant positive family history. trinucleotide ataxin 3 Homo sapiens
2 Gene analysis showed abnormal amplification of the CAG trinucleotide repeat in exon 10 of the ataxin-3 (ATXN3) gene, resulting in 70-81 CAG repeats in the patient, with a significant positive family history. trinucleotide ataxin 3 Homo sapiens