Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: haplotype and genotype-phenotype correlation studies in Spanish metachromatic leukodystrophy patients. [electronic resource]
Producer: 19991012Description: 240-8 p. digitalISSN:- 1059-7794
- Adolescent
- Adult
- Age of Onset
- Alleles
- Cells, Cultured
- Cerebroside-Sulfatase -- genetics
- Child
- Child, Preschool
- Chromosome Mapping
- Chromosomes, Human, Pair 22 -- genetics
- DNA Mutational Analysis
- Female
- Fibroblasts -- enzymology
- Gene Frequency
- Haplotypes -- genetics
- Humans
- Infant
- Leukodystrophy, Metachromatic -- diagnosis
- Male
- Mutation
- Phenotype
- Polymerase Chain Reaction
- Polymorphism, Genetic -- genetics
- Polymorphism, Single-Stranded Conformational
- Spain
- Sulfoglycosphingolipids -- urine
No physical items for this record
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
There are no comments on this title.
Log in to your account to post a comment.