Cerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia.
| Autor: | Mandrile G; Medical Genetics Unit, San Luigi Gonzaga University Hospital, Regione Gonzole 10, 10043, Orbassano, TO, Italy, giorgia.mandrile@unito.it., Gallus GN, Mura G, Di Sapio A, Sotgiu MA, Montella A, Giachino DF, Dotti MT, Ulgheri L, Federico A |
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| Jazyk: | angličtina |
| Zdroj: | Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2014 Aug; Vol. 35 (8), pp. 1303-5. Date of Electronic Publication: 2014 Mar 02. |
| DOI: | 10.1007/s10072-014-1696-6 |
| Databáze: | MEDLINE |
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