title: Metachromatic leukodystrophy: a novel mutation (c237delC) and extension of the haplotype associated with the P426L mutation.
authors.affiliation: Institut de Bioquímica Clínica, Corporació Sanitària Clínic, Barcelona, Spain.
authors.forename: L
authors.initials: L
authors.lastname: Gort
authors.forename: M J
authors.initials: MJ
authors.lastname: Coll
authors.forename: A
authors.initials: A
authors.lastname: Chabás
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics*; D002553:Cerebroside-Sulfatase / Q000235:genetics; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D007930:Leucine / Q000235:genetics; D007966:Leukodystrophy, Metachromatic / Q000201:enzymology / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics*; D011392:Proline / Q000235:genetics; D017384:Sequence Deletion
chemical_list: D011392:Proline; D002553:Cerebroside-Sulfatase; D007930:Leucine