Prevalence of arylsulphatase A mutations in 11 Japanese patients with metachromatic leukodystrophy: identification of two novel mutations.

Suppr

超能文献

作者信息

Kurosawa K, Ida H, Eto Y

机构信息

Department of Pediatrics, Jikei University School of Medicine, Tokyo, Japan.

出版信息

J Inherit Metab Dis. 1998 Oct;21(7):781-2. doi: 10.1023/a:1005405418215.

DOI:10.1023/a:1005405418215

PMID:9819708

Abstract

摘要

相似文献

Prevalence of arylsulphatase A mutations in 11 Japanese patients with metachromatic leukodystrophy: identification of two novel mutations.

J Inherit Metab Dis. 1998 Oct;21(7):781-2. doi: 10.1023/a:1005405418215.

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.

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.

Molecular genetics of metachromatic leukodystrophy.异染性脑白质营养不良的分子遗传学

J Inherit Metab Dis. 1994;17(4):500-9. doi: 10.1007/BF00711364.

Prevalence of arylsulfatase A pseudodeficiency allele in metachromatic leukodystrophy patients from Poland.波兰异染性脑白质营养不良患者中芳基硫酸酯酶A假缺陷等位基因的患病率。

Eur Neurol. 2000;44(2):104-7. doi: 10.1159/000008205.

Molecular basis of metachromatic leukodystrophy.

N Engl J Med. 1991 Jun 6;324(23):1673. doi: 10.1056/NEJM199106063242315.

Molecular analysis of the arylsulphatase A gene in late infantile metachromatic leucodystrophy patients and healthy subjects from Italy.意大利晚发性婴儿型异染性脑白质营养不良患者及健康受试者芳基硫酸酯酶A基因的分子分析

J Med Genet. 1996 Mar;33(3):251-2. doi: 10.1136/jmg.33.3.251.

A novel mutation of the arylsulfatase A gene in late-onset metachromatic leukodystrophy.迟发性异染性脑白质营养不良中芳基硫酸酯酶A基因的一种新突变。

J Clin Psychiatry. 2009 Dec;70(12):1724-5. doi: 10.4088/JCP.09l05010.

Metachromatic leucodystrophy: a newly identified mutation in arylsulphatase A, D281Y, found as a compound heterozygote with I179L in an adult onset case.异染性脑白质营养不良：在一例成年发病病例中发现芳基硫酸酯酶A的一种新突变D281Y，它与I179L构成复合杂合子。

Hum Mutat. 1999 Nov;14(5):447. doi: 10.1002/(SICI)1098-1004(199911)14:5<447::AID-HUMU12>3.0.CO;2-1.

Two novel mutations in the arylsulfatase A gene associated with juvenile (R390Q) and adult onset (H397Y) metachromatic leukodystrophy.

Hum Mutat. 1998;Suppl 1:S254-6. doi: 10.1002/humu.1380110181.

引用本文的文献

Late infantile metachromatic leukodystrophy: Clinical manifestations of five Taiwanese patients and Genetic features in Asia.晚发性婴儿型异染性脑白质营养不良：5例台湾患者的临床表现及亚洲地区的遗传学特征

Orphanet J Rare Dis. 2015 Nov 9;10:144. doi: 10.1186/s13023-015-0363-1.

本文引用的文献

Mutation prevalence among 47 unrelated Japanese patients with Gaucher disease: identification of four novel mutations.

J Inherit Metab Dis. 1997 Mar;20(1):67-73. doi: 10.1023/a:1005313724361.

Arylsulfatase A pseudodeficiency: loss of a polyadenylylation signal and N-glycosylation site.芳基硫酸酯酶A假缺陷：多聚腺苷酸化信号和N-糖基化位点的缺失。

Proc Natl Acad Sci U S A. 1989 Dec;86(23):9436-40. doi: 10.1073/pnas.86.23.9436.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验