Metachromatic leukodystrophy: a nonsense mutation (Q486X) in the arylsulphatase A (ARSA) gene.
作者信息
Harvey J S, Carey W F, Nelson P V, Morris C P
机构信息
Department of Chemical Pathology, Women's and Children's Hospital, North Adelaide, Australia.
出版信息
Hum Mol Genet. 1994 Jan;3(1):207. doi: 10.1093/hmg/3.1.207.
PMID:7909249
Abstract
摘要
相似文献
1
Metachromatic leukodystrophy: a nonsense mutation (Q486X) in the arylsulphatase A (ARSA) gene.
Hum Mol Genet. 1994 Jan;3(1):207. doi: 10.1093/hmg/3.1.207.
2
Searching for mutations in the arylsulphatase A gene.寻找芳基硫酸酯酶A基因中的突变。
J Inherit Metab Dis. 1994;17(3):311-4. doi: 10.1007/BF00711816.
3
Metachromatic leukodystrophy: a 12-bp deletion in exon 2 of the arylsulfatase A gene in a late infantile variant.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。
Hum Genet. 1995 Sep;96(3):357-60. doi: 10.1007/BF00210424.
4
Gene symbol: ARSA. Disease: metachromatic leukodystrophy.基因符号：ARSA。疾病：异染性脑白质营养不良。
Hum Genet. 2005 Dec;118(3-4):538.
5
Gene symbol: ARSA. Disease: metachromatic leukodystrophy.基因符号：ARSA。疾病：异染性脑白质营养不良。
Hum Genet. 2005 Dec;118(3-4):537.
6
Gene symbol: ARSA. Disease: metachromatic leukodystrophy.基因符号：ARSA。疾病：异染性脑白质营养不良。
Hum Genet. 2005 Dec;118(3-4):537.
7
Gene symbol: ARSA. Disease: metachromatic leukodystrophy.基因符号：ARSA。疾病：异染性脑白质营养不良。
Hum Genet. 2005 Dec;118(3-4):538.
8
Missense mutations in the arylsulphatase A genes of metachromatic leukodystrophy patients.异染性脑白质营养不良患者芳基硫酸酯酶A基因中的错义突变。
Hum Mol Genet. 1993 Dec;2(12):2117-21. doi: 10.1093/hmg/2.12.2117.
9
A T > C transition causing a Leu > Pro substitution in a conserved region of the arylsulfatase A gene in a late infantile metachromatic leukodystrophy patient.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基因保守区域发生A>T转换，导致亮氨酸>脯氨酸替代。
Clin Genet. 1997 Jul;52(1):65-7. doi: 10.1111/j.1399-0004.1997.tb02518.x.
10
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.
引用本文的文献
1
Metachromatic leukodystrophy: molecular genetics and an animal model.异染性脑白质营养不良：分子遗传学与动物模型
J Inherit Metab Dis. 1998 Aug;21(5):564-74. doi: 10.1023/a:1005471106088.
2
The arylsulphatase A gene and molecular genetics of metachromatic leucodystrophy.芳基硫酸酯酶A基因与异染性脑白质营养不良的分子遗传学。
J Med Genet. 1994 Sep;31(9):663-6. doi: 10.1136/jmg.31.9.663.
Zotero 插件