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Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: Possible single origin for 1091delC mutation

✍ Scribed by Chab�s, Amparo ;Montfort, Magda ;Mart�nez-Campos, Maruxa ;D�az, Anna ;Coll, Maria Josep ;Grinberg, Daniel ;Vilageliu, Llu�sa


Publisher
John Wiley and Sons
Year
2001
Tongue
English
Weight
115 KB
Volume
100
Category
Article
ISSN
0148-7299

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Mutation 1091delC is highly prevalent in
✍ Magda Montfort; Lluïsa Vilageliu; Natàlia Garcia-Giralt; Silvina Guidi; Maria Jo 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 247 KB 👁 1 views

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