• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann-Pick disease.

作者信息

Takahashi T, Desnick R J, Takada G, Schuchman E H

机构信息

Mount Sinai School of Medicine, New York, New York 10029.

出版信息

Hum Mutat. 1992;1(1):70-1. doi: 10.1002/humu.1380010111.

DOI:10.1002/humu.1380010111
PMID:1301192
Abstract
摘要

相似文献

1
Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann-Pick disease.
Hum Mutat. 1992;1(1):70-1. doi: 10.1002/humu.1380010111.
2
Type A Niemann-Pick disease: a frameshift mutation in the acid sphingomyelinase gene (fsP330) occurs in Ashkenazi Jewish patients.A型尼曼-匹克病：酸性鞘磷脂酶基因中的移码突变（fsP330）发生在德系犹太患者中。
Hum Mutat. 1993;2(4):317-9. doi: 10.1002/humu.1380020414.
3
Two new mutations in the acid sphingomyelinase gene causing type a Niemann-pick disease: N389T and R441X.酸性鞘磷脂酶基因中的两个新突变导致A型尼曼-匹克病：N389T和R441X。
Hum Mutat. 1995;6(4):352-4. doi: 10.1002/humu.1380060412.
4
Acid sphingomyelinase deficient mice: a model of types A and B Niemann-Pick disease.酸性鞘磷脂酶缺陷小鼠：A 型和 B 型尼曼-匹克病的模型
Nat Genet. 1995 Jul;10(3):288-93. doi: 10.1038/ng0795-288.
5
Acid sphingomyelinase: identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon.酸性鞘磷脂酶：意大利B型尼曼-皮克病患者中9种新突变的鉴定及体内功能性框内起始密码子的特征分析
Hum Mutat. 2004 Aug;24(2):186-7. doi: 10.1002/humu.9263.
6
Identification and expression of a missense mutation (Y446C) in the acid sphingomyelinase gene from a Japanese patient with type A Niemann-Pick disease.一名日本A型尼曼-匹克病患者酸性鞘磷脂酶基因错义突变（Y446C）的鉴定与表达
Tohoku J Exp Med. 1995 Oct;177(2):117-23. doi: 10.1620/tjem.177.117.
7
Niemann-Pick type B disease. Identification of a single codon deletion in the acid sphingomyelinase gene and genotype/phenotype correlations in type A and B patients.尼曼-匹克B型病。酸性鞘磷脂酶基因中单个密码子缺失的鉴定以及A、B型患者的基因型/表型相关性。
J Clin Invest. 1991 Sep;88(3):806-10. doi: 10.1172/JCI115380.
8
Identification of three novel mutations in the acid sphinogomyelinase gene of Japanese patients with Niemann-Pick disease type A and B.日本A型和B型尼曼-匹克病患者酸性鞘磷脂酶基因中三个新突变的鉴定
Hum Mutat. 1996;7(1):65-7. doi: 10.1002/(SICI)1098-1004(1996)7:1<65::AID-HUMU10>3.0.CO;2-Q.
9
Clinical findings in Niemann-Pick disease type B.尼曼-匹克病B型的临床发现。
Intern Med J. 2006 Feb;36(2):135-6. doi: 10.1111/j.1445-5994.2005.01013.x.
10
Niemann-Pick type C disease: novel NPC1 mutations and characterization of the concomitant acid sphingomyelinase deficiency.尼曼-匹克C型病：新型NPC1突变及伴随的酸性鞘磷脂酶缺乏症的特征
Mol Genet Metab. 2006 Feb;87(2):113-21. doi: 10.1016/j.ymgme.2005.07.025. Epub 2005 Sep 6.

引用本文的文献

1
Allele frequency of pathogenic variants causing acid sphingomyelinase deficiency and Gaucher disease in the general Japanese population.日本普通人群中导致酸性鞘磷脂酶缺乏症和戈谢病的致病变体的等位基因频率。
Hum Genome Var. 2024 Jun 12;11(1):24. doi: 10.1038/s41439-024-00282-z.
2
Functional implications of novel human acid sphingomyelinase splice variants.新型人类酸性鞘磷脂酶剪接变异体的功能意义。
PLoS One. 2012;7(4):e35467. doi: 10.1371/journal.pone.0035467. Epub 2012 Apr 27.
3
Characterization of common SMPD1 mutations causing types A and B Niemann-Pick disease and generation of mutation-specific mouse models.
导致A型和B型尼曼-匹克病的常见SMPD1突变的特征分析及突变特异性小鼠模型的构建。
Mol Genet Metab. 2008 Nov;95(3):152-62. doi: 10.1016/j.ymgme.2008.08.004. Epub 2008 Sep 23.
4
Acid sphingomyelinase deficiency: cardiac dysfunction and characteristic findings of the coronary arteries.
J Inherit Metab Dis. 2006 Feb;29(1):232-4. doi: 10.1007/s10545-006-0226-y.
5
The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations.B型尼曼-匹克病的人口统计学特征与分布：新突变导致新的基因型/表型相关性
Am J Hum Genet. 2002 Dec;71(6):1413-9. doi: 10.1086/345074. Epub 2002 Oct 4.
6
Deletion of arginine (608) in acid sphingomyelinase is the prevalent mutation among Niemann-Pick disease type B patients from northern Africa.酸性鞘磷脂酶中精氨酸（608）的缺失是北非B型尼曼-皮克病患者中的常见突变。
Hum Genet. 1993 Oct;92(4):325-30. doi: 10.1007/BF01247328.
7
A family with visceral course of Niemann-Pick disease, macular halo syndrome and low sphingomyelin degradation rate.一个患有尼曼-匹克病内脏型、黄斑晕轮综合征且鞘磷脂降解率低的家族。
J Inherit Metab Dis. 1994;17(1):93-103. doi: 10.1007/BF00735404.
8
Molecular analysis of the acid sphingomyelinase deficiency in a family with an intermediate form of Niemann-Pick disease.尼曼-匹克病中间型家族中酸性鞘磷脂酶缺乏症的分子分析
Am J Hum Genet. 1995 Jun;56(6):1343-9.