Genetic testing for Sorsby’s fundus dystrophy
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of the genetic test for Sorsby’s fundus dystrophy (SFD). SFD is caused by variations in the TIMP3 gene. Prevalence is, currently unknown. SFD has autosomal dominant inheritance. Clinical diagnosis...
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| Hlavní autoři: | , , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Sciendo
2017-10-01
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| Edice: | The EuroBiotech Journal |
| On-line přístup: | https://doi.org/10.24190/ISSN2564-615X/2017/S1.32 |
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