A T > C transition causing a Leu > Pro substitution in a conserved region of the arylsulfatase A gene in a late infantile metachromatic leukodystrophy patient.

Article Details

Citation

Regis S, Filocamo M, Stroppiano M, Corsolini F, Gatti R

A T > C transition causing a Leu > Pro substitution in a conserved region of the arylsulfatase A gene in a late infantile metachromatic leukodystrophy patient.

Clin Genet. 1997 Jul;52(1):65-7.

PubMed ID
9272717 [ View in PubMed
]
Abstract

A T > C transition (L428P) was detected in the arylsulfatase A alleles of a late infantile metachromatic leukodystrophy patient. The mutation causes a Leu > Pro substitution in exon 8. It lies in a region conserved among arylsulfatases. The mutation was not detected in 37 other patients and in 57 normal controls.

DrugBank Data that Cites this Article

Polypeptides
NameUniProt ID
Arylsulfatase AP15289Details