@article{58aca40b9c294a2386e809da5670fab0,
title = "Metachromatic leukodystrophy: a 12-bp deletion in exon 2 of the arylsulfatase A gene in a late infantile variant",
abstract = "Sequencing of the arylsulfatase A gene in a late infantile metachromatic leukodystrophy patient showed the presence of a 12-bp deletion in exon 2. This deletion was found in a compound heterozygous state with the previously described 287 C→T transition.",
author = "Luyten, {Jan A.F.M.} and Wenink, {Paul W.} and Steenbergen-Spanjers, {Gerry C.H.} and Wevers, {Ron A.} and {van Amstel}, {Hans Kristian Ploos} and {de Jong}, {Jan G.N.} and {van den Heuvel}, {Lambert P.W.J.}",
year = "1995",
month = sep,
day = "1",
doi = "10.1007/BF00210424",
language = "English",
volume = "96",
pages = "357--360",
journal = "Human Genetics",
issn = "0340-6717",
publisher = "Springer-Verlag",
number = "3",
}