Sanfilippo syndrome type A in two adult sibs
β Scribed by Lindor, Noralane M. ;Hoffman, Alan ;O'Brien, John F. ;Hanson, Norman P. ;Thompson, Jerry N.
- Publisher
- John Wiley and Sons
- Year
- 1994
- Tongue
- English
- Weight
- 413 KB
- Volume
- 53
- Category
- Article
- ISSN
- 0148-7299
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The gene resposible for Sanfilippo syndrome type A, a lysosomal disorder caused by deficiency of sulfamidase, was recently cloned and more than 40 mutations were identified. This paper presents the mutation analysis and clinical findings in 11 Spanish patients in whom 19 of the 22 mutant alleles hav
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