Two new arylsulfatase A (ARSA) mutations in a juvenile metachromatic leukodystrophy (MLD) patient.

Article

Two new arylsulfatase A (ARSA) mutations in a juvenile metachromatic leukodystrophy (MLD) patient.

American journal of human genetics - 1 Dec 1991

Fluharty A L, Fluharty C B, Bohne W, von Figura K, Gieselmann V

Abstract excerpt

Fragments of the arylsulfatase A (ARSA) gene from a patient with juvenile-onset metachromatic leukodystrophy (MLD) were amplified by PCR and ligated into MP13 cloning vectors. Clones hybridizing with cDNA for human ARSA were selected, examined for appropriate size inserts, and used to prepare sin...

Topics

Adolescent
Base Sequence
Cerebroside-Sulfatase
Child
Humans
Leukodystrophy, Metachromatic
Male
Molecular Sequence Data
Mutagenesis, Site-Directed
Mutation
Oligonucleotide Probes
Pedigree
RNA, Messenger

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