Genetic testing for Refsum disease
| Autor: | Abeshi Andi, Zulian Alessandra, Beccari Tommaso, Dundar Munis, D’Esposito Fabiana, Bertelli Matteo |
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| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: | |
| Zdroj: | The EuroBiotech Journal, Vol 1, Iss s1, Pp 89-91 (2017) |
| Druh dokumentu: | article |
| ISSN: | 2564-615X 26008211 |
| DOI: | 10.24190/ISSN2564-615X/2017/S1.28 |
| Popis: | 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 clinical findings, ophthalmological examination, electroretinography, optical coherence tomography and phytanic acid assay. The genetic test is useful for confirming diagnosis, for differential diagnosis, couple risk assessment and access to clinical trials. |
| Databáze: | Directory of Open Access Journals |
| Externí odkaz: |
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