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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
DOI: 10.1002/ajmg.1248

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📜 SIMILAR VOLUMES

Erratum: Chab�s A, Montfort M, Mart�nez-

Erratum: Chab�s A, Montfort M, Mart�nez-Campos M, D�az A, Coll MJ, Grinberg D, Vilageliu L. 2001. Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type a patients: possible single origin for 1091delC mutation. Am J Med Genet 100:223-228.

📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 26 KB 👁 1 views

Mutation 1091delC is highly prevalent in

Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients

✍ 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