DNA-based diagnosis of arylsulfatase A deficiencies as a supplement to enzyme assay: a case in point.

doi:10.1016/s0009-9120(96)00124-5

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Article

DNA-based diagnosis of arylsulfatase A deficiencies as a supplement to enzyme assay: a case in point.

Clinical biochemistry - 1 Feb 1997

Coulter-Mackie M B, Applegarth D A, Toone J, Vallance H

Abstract excerpt

OBJECTIVE: To identify the molecular basis of arylsulfatase A deficiency in a family at risk for metachromatic leukodystrophy (MLD) and determine the genetic risk in the offspring. METHODS: Mutations in the arylsulfatase A gene were identified by PCR amplification and restriction enzyme digestion...

Topics

Alleles
Arylsulfatases
Cell Line
Cerebroside-Sulfatase
Child, Preschool
Female
Fibroblasts
Genetic Carrier Screening
Humans
Leukocytes
Leukodystrophy, Metachromatic
Male
Pedigree
Polymerase Chain Reaction

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