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Metachromatic leukodystrophy: a 12-bp deletion in exon 2 of the arylsulfatase A gene in a late infantile variant |
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| Authors: | Jan A F M Luyten Paul W Wenink Gerry C H Steenbergen-Spanjers Ron A Wevers Hans Kristian Ploos van Amstel Jan G N de Jong Lambert P W J van den Heuvel |
| Institution: | (1) Laboratory of Pediatrics and Neurology, University Hospital Nijmegen, Reinier Postlaan 4, P.O.Box 9101, 6500 HB Nijmegen, The Netherlands;(2) Diagnostic DNA Laboratory, University Hospital Utrecht, Utrecht, The Netherlands;(3) DNA Laboratory, Clinical Genetics Centre, Utrecht, The Netherlands |
| 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. |
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