eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | kennedy disease |
| Comorbidity | C0002453|amenorrhea |
| Sentences | 1 |
| PubMedID- 25606384 | •ar is a member of the steroid receptor superfamily.•ar gene was screened in a patient with primary amenorrhea by direct pcr sequencing.•a novel insertion mutation (c.2369_2370insg, p.cys669trpfsx12) was identified.•this causes frame shift mutation resulting in truncated form of the ar protein.•the finding further enriched the ar mutation spectrum. |
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