Pseudodeficiency of arylsulphatase A: Strategy for clarification of genotype in families of subjects with low ASA activity and neurological symptoms
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/BF02436761
Reference15 articles.
1. Barth ML, Ward C, Harris A, Saad A, Fenson A (1994) Frequency of arylsulphatase A pseudodeficiency-associated mutations in a healthy population.J Med Genet 31: 667–671.
2. Davies JP, Winchester BG, Malcolm S (1993) Sequence variations in the first exon of α-galactosidase A.J Med Genet 30: 658–663.
3. Gieselmann V (1991) An assay for the rapid detection of the arylsulfatase A pseudodeficiency allele facilitates diagnosis and genetic counselling for metachromatic leukodystrophy.Hum Genet 86: 251–255.
4. Gieselmann V, Polten A, Kreysing J, von Figura K (1989) Arylsulfatase A pseudodeficiency: loss of a polyadenylation signal andN-glycosylation site.Proc Natl Acad Sci USA 86: 9436–9440.
5. Goldenfum S, Malcolm S, Young E, Winchester B (1993) The molecular detection of the pseudodeficiency allele for arylsuphatase A in patients with neurological symptoms and low arylsulphatase A activity.J Inher Metab Dis 16: 1048–1049.
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