Metachromatic leukodystrophy is a lysosomal storage disorder caused by the deficiency of arylsulfatase A. Examination of the arylsulfatase A gene in a patient suffering from late infantile metachromatic leukodystrophy revealed an ll-bp deletion in exon 8. Although this allele produces normal amounts
β¦ LIBER β¦
A D255H substitution in the arylsulphatase A gene of two unrelated Belgian patients with late-infantile metachromatic leukodystrophy
β Scribed by W. Lissens; R. Vervoort; N. Van Regemorter; P. Van Bogaert; M. Freund; C. Verellen-Dumoulin; S. Seneca; I. Liebaers
- Publisher
- Springer
- Year
- 1996
- Tongue
- English
- Weight
- 427 KB
- Volume
- 19
- Category
- Article
- ISSN
- 0141-8955
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
An 11-bp deletion in the arylsulfatase A
β
Wolfgang Bohne; Kurt Figura; Volkmar Gieselmann
π
Article
π
1991
π
Springer
π
English
β 572 KB
Prevalence of common mutations in the ar
β
Maria Luiza Barth; Anthony Fensom; Ann Harris
π
Article
π
1993
π
Springer
π
English
β 540 KB
S2.28 Mutations in the arylsulfatase a g
β
K. Honke; T. Kobayashi; R. Kondo; S. Tsuji; A. Makita
π
Article
π
1993
π
Springer US
π
English
β 126 KB
An AT-deletion causing a frameshift in t
β
Stefano Regis; Romeo Carrozzo; Mirella Filocamo; Gigliola Serra; Camillo Mastrop
π
Article
π
1995
π
Springer
π
English
β 561 KB
Metachromatic leukodystrophy: a 12-bp de
β
Jan A. F. M. Luyten; Paul W. Wenink; Gerry C. H. Steenbergen-Spanjers; Ron A. We
π
Article
π
1995
π
Springer
π
English
β 378 KB
Identification of 12 novel mutations and
β
Laura Gort; M. Josep Coll; Amparo ChabΓ‘s
π
Article
π
1999
π
John Wiley and Sons
π
English
β 305 KB
π 2 views
Arylsulfatase A (ARSA) deficiency is the main cause of metachromatic leukodystrophy (MLD), a lysosomal disorder with no specific treatment. In view of the importance of genetic counseling, analyses of mutations and polymorphisms, including the ARSA pseudodeficiency allele, were carried out in 18 unr