Genetic testing for choroideremia
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of the genetic test for choroideremia (CHM). CHM is an inherited X-linked recessive disorder associated with variations in the CHM gene. The overall prevalence of CHM varies from 1 in 50 000 to 1 i...
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| Główni autorzy: | , , , , , , , |
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| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
Sciendo
2017-10-01
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| Seria: | The EuroBiotech Journal |
| Dostęp online: | https://doi.org/10.24190/ISSN2564-615X/2017/S1.08 |
| Etykiety: |
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