The arylsulphatase A gene and molecular genetics of metachromatic leucodystrophy.
作者信息
Barth M L, Fensom A, Harris A
机构信息
Division of Medical and Molecular Genetics, UMDS-Guy's Campus, London, UK.
出版信息
J Med Genet. 1994 Sep;31(9):663-6. doi: 10.1136/jmg.31.9.663.
Abstract
摘要
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[On metachromatic leukodystrophy (Scholz type)].[关于异染性脑白质营养不良（朔尔茨型）]
Arch Psychiatr Nervenkr Z Gesamte Neurol Psychiatr. 1959;199:386-416. doi: 10.1007/BF00342847.
2
A CONTROLLED STUDY OF ENZYMIC ACTIVITIES IN THREE HUMAN DISORDERS OF GLYCOLIPID METABOLISM.三项人类糖脂代谢紊乱中酶活性的对照研究。
J Neurochem. 1963 Dec;10:805-16. doi: 10.1111/j.1471-4159.1963.tb11905.x.
3
Metachromatic sulfatides in cerebral white matter and kidney.脑白质和肾脏中的异染性硫脂
Proc Soc Exp Biol Med. 1959 Feb;100(2):361-4. doi: 10.3181/00379727-100-24627.
4
[Two types of cerebroside sulfates as so-called prelipids and storage substances in leukodystrophy of type Scholz (metachromatic form of diffuse sclerosis)].[两种脑硫脂作为所谓的前脂和施尔茨型脑白质营养不良（弥漫性硬化的异染性形式）中的储存物质]
Hoppe Seylers Z Physiol Chem. 1958;311(4-6):279-82.
5
An arylsulfatase A (ARSA) missense mutation (T274M) causing late-infantile metachromatic leukodystrophy.一种导致晚发性婴儿型异染性脑白质营养不良的芳基硫酸酯酶A（ARSA）错义突变（T274M）。
Hum Mutat. 1993;2(4):261-7. doi: 10.1002/humu.1380020405.
6
Mutations in the arylsulfatase A gene of Japanese patients with metachromatic leukodystrophy.日本异染性脑白质营养不良患者芳基硫酸酯酶A基因的突变
DNA Cell Biol. 1993 Jul-Aug;12(6):493-8. doi: 10.1089/dna.1993.12.493.
7
High residual arylsulfatase A (ARSA) activity in a patient with late-infantile metachromatic leukodystrophy.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（ARSA）残留活性较高。
Am J Hum Genet. 1993 Aug;53(2):339-46.
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Prevalence of common mutations in the arylsulphatase A gene in metachromatic leukodystrophy patients diagnosed in Britain.在英国被诊断为异染性脑白质营养不良的患者中芳基硫酸酯酶A基因常见突变的患病率。
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9
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