An Asn>Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity
| Autor: | Regis, S, Filocamo, M, Corsolini, F, Caroli, F, Keulemans, JLM, Diggelen, Otto, Gatti, R |
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| Přispěvatelé: | Clinical Genetics |
| Rok vydání: | 1999 |
| Zdroj: | European Journal of Human Genetics, 7, 125-130. Nature Publishing Group |
| ISSN: | 1018-4813 |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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