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Oligomerization capacity of two arylsulfatase A mutants: C300F and P425T

✍ Scribed by Ana Marcão; Jorge E Azevedo; Volkmar Gieselmann; M.C Sá Miranda


Book ID
117054052
Publisher
Elsevier Science
Year
2003
Tongue
English
Weight
156 KB
Volume
306
Category
Article
ISSN
0006-291X

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Metachromatic leucodystrophy in Portugal
✍ Ana Marcão; Olga Amaral; Eugénia Pinto; Rui Pinto; M.C. Sá Miranda 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 21 KB

The mutation identification rate achieved in the study of Portuguese MLD patients was found to be extremely high (100%), thus revealing the power of the association of vertical and horizontal PCR-SSCA. The identification of new mutations adds to the large number of mutations already described to be