异染性脑白质营养不良：晚发性婴儿型变异型中芳基硫酸酯酶A基因外显子2的12碱基对缺失。
Metachromatic leukodystrophy: a 12-bp deletion in exon 2 of the arylsulfatase A gene in a late infantile variant.
作者信息
Luyten J A, Wenink P W, Steenbergen-Spanjers G C, Wevers R A, Ploos van Amstel H K, de Jong J G, van den Heuvel L P
机构信息
Laboratory of Pediatrics and Neurology, University Hospital Nijmegen, The Netherlands.
出版信息
Hum Genet. 1995 Sep;96(3):357-60. doi: 10.1007/BF00210424.
PMID:7649558
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.
摘要
对一名晚发性婴儿型异染性脑白质营养不良患者的芳基硫酸酯酶A基因进行测序，结果显示外显子2存在一个12碱基对的缺失。该缺失与先前描述的287 C→T转换处于复合杂合状态。
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