Metachromatic leukodystrophy: a novel mutation (c237delC) and extension of the haplotype associated with the P426L mutation.
Gort
L
L
Institut de Bioquímica Clínica, Corporació Sanitària Clínic, Barcelona, Spain.
Coll
M J
MJ
Chabás
A
A
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
D011392:Proline; D002553:Cerebroside-Sulfatase; D007930:Leucine