Gort, L <br/><br/>
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] 

 -  Human mutation  1999 
 - 240-8 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1059-7794 
<br/><br/><label>Standard No.: </label>10.1002/(SICI)1098-1004(1999)14:3<240::AID-HUMU7>3.0.CO;2-L  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Age of Onset<br/>Alleles<br/>Cells, Cultured<br/>Cerebroside-Sulfatase--genetics<br/>Child<br/>Child, Preschool<br/>Chromosome Mapping<br/>Chromosomes, Human, Pair 22--genetics<br/>DNA Mutational Analysis<br/>Female<br/>Fibroblasts--enzymology<br/>Gene Frequency<br/>Haplotypes--genetics<br/>Humans<br/>Infant<br/>Leukodystrophy, Metachromatic--diagnosis<br/>Male<br/>Mutation<br/>Phenotype<br/>Polymerase Chain Reaction<br/>Polymorphism, Genetic--genetics<br/>Polymorphism, Single-Stranded Conformational<br/>Spain<br/>Sulfoglycosphingolipids--urine