Pub. Date : 1993
PMID : 20301664
2 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
| 1 | DIAGNOSIS/TESTING: The diagnosis of DRPLA is established in a proband with suggestive clinical findings and a family history of DRPLA or by the identification of a heterozygous pathogenic CAG trinucleotide expansion in ATN1 by molecular genetic testing. | trinucleotide | atrophin 1 | Homo sapiens |
| 2 | DIAGNOSIS/TESTING: The diagnosis of DRPLA is established in a proband with suggestive clinical findings and a family history of DRPLA or by the identification of a heterozygous pathogenic CAG trinucleotide expansion in ATN1 by molecular genetic testing. | trinucleotide | atrophin 1 | Homo sapiens |