METACHROMATIC LEUKODYSTROPHY - A 12-BP DELETION IN EXON-2 OF THE ARYLSULFATASE-A GENE IN A LATE INFANTILE VARIANT

Authors
LUYTEN JAFM WENINK PW STEENBERGENSPANJERS GCH WEVERS RA VANAMSTEL HKP DEJONG JGN VANDENHEUVEL LPWJ
Citation
Jafm. Luyten et al., METACHROMATIC LEUKODYSTROPHY - A 12-BP DELETION IN EXON-2 OF THE ARYLSULFATASE-A GENE IN A LATE INFANTILE VARIANT, Human genetics, 96(3), 1995, pp. 357-360
Citations number
6
Categorie Soggetti
Genetics & Heredity
Journal title
Human genetics → ACNP
ISSN journal
03406717
Volume
96
Issue
3
Year of publication
1995
Pages
357 - 360
Database
ISI
SICI code
0340-6717(1995)96:3<357:ML-A1D>2.0.ZU;2-9
Abstract
Sequencing of the arylsulfatase A gene in a late infantile metachromat ic leukodystrophy patient showed the presence of a 12-bp deletion in e xon 2. This deletion was found in a compound heterozygous state with t he pre viously described 287 C-->T transition.