Late-onset metachromatic leukodystrophy clinically presenting as isolated peripheral neuropathy: Compound heterozygosity for the IVS2+1G→a mutation and a newly identified missense mutation (Thr408Ile) in a Spanish family.
| Autor: | Comabella, Manuel, Waye, John S., Raguer, Nuria, Eng, Barry, Domínguez, Carmen, Navarro, Carmen, Borrás, Cecilia, Krivit, William, Montalbán, Xavier |
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| Zdroj: | Annals of Neurology; 2001, Vol. 50 Issue 1, p108-112, 5p |
| Databáze: | Complementary Index |
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