Genetic testing for Refsum disease
We reviewed the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Refsum disease. The disease has autosomal recessive inheritance, unknown prevalence, and is caused by variations in PEX7 and PHYH genes. Clinical diagnosis is based on clini...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Sciendo
2017-10-01
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| Series: | The EuroBiotech Journal |
| Online Access: | https://doi.org/10.24190/ISSN2564-615X/2017/S1.28 |