TY  - GEN
AU  - Gort,L
AU  - Coll,M J
AU  - Chabás,A
TI  - 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
SN  - 1059-7794
PY  - 1999///1012
KW  - Adolescent
KW  - Adult
KW  - Age of Onset
KW  - Alleles
KW  - Cells, Cultured
KW  - Cerebroside-Sulfatase
KW  - genetics
KW  - Child
KW  - Child, Preschool
KW  - Chromosome Mapping
KW  - Chromosomes, Human, Pair 22
KW  - DNA Mutational Analysis
KW  - Female
KW  - Fibroblasts
KW  - enzymology
KW  - Gene Frequency
KW  - Haplotypes
KW  - Humans
KW  - Infant
KW  - Leukodystrophy, Metachromatic
KW  - diagnosis
KW  - Male
KW  - Mutation
KW  - Phenotype
KW  - Polymerase Chain Reaction
KW  - Polymorphism, Genetic
KW  - Polymorphism, Single-Stranded Conformational
KW  - Spain
KW  - Sulfoglycosphingolipids
KW  - urine
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/(SICI)1098-1004(1999)14:3<240::AID-HUMU7>3.0.CO;2-L
ER  -