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 - Suppr

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Identification of three novel mutations in the acid sphinogomyelinase gene of Japanese patients with Niemann-Pick disease type A and B.

作者信息

Ida H, Rennert O M, Maekawa K, Eto Y

机构信息

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

出版信息

Hum Mutat. 1996;7(1):65-7. doi: 10.1002/(SICI)1098-1004(1996)7:1<65::AID-HUMU10>3.0.CO;2-Q.

DOI:10.1002/(SICI)1098-1004(1996)7:1<65::AID-HUMU10>3.0.CO;2-Q

PMID:8664904

Abstract

摘要

相似文献

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.

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.

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.

Identification of a 3' acceptor splice site mutation (g2610c) in the acid sphingomyelinase gene of patients with Niemann-Pick disease.尼曼-匹克病患者酸性鞘磷脂酶基因中3' 剪接受体剪接位点突变（g2610c）的鉴定。

Hum Mol Genet. 1993 Feb;2(2):205-6. doi: 10.1093/hmg/2.2.205.

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.

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.

Analysis of the sphingomyelin phosphodiesterase 1 gene (SMPD1) in Turkish Niemann-Pick disease patients: mutation profile and description of a novel mutation.分析土耳其尼曼-匹克病患者的鞘磷脂磷酸二酯酶 1 基因（SMPD1）：突变谱及新突变的描述。

Gene. 2013 Sep 10;526(2):484-6. doi: 10.1016/j.gene.2013.03.116. Epub 2013 Apr 22.

Molecular basis of acid sphingomyelinase deficiency in a patient with Niemann-Pick disease type A.一名A型尼曼-匹克病患者酸性鞘磷脂酶缺乏的分子基础。

Biochem Biophys Res Commun. 1991 Sep 30;179(3):1187-91. doi: 10.1016/0006-291x(91)91697-b.

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.

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.

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Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency.定量分析溶血磷脂酰丝氨酸和溶血磷脂酰丝氨酸-509 以筛查酸性鞘磷脂酶缺乏症。

Orphanet J Rare Dis. 2022 Nov 8;17(1):407. doi: 10.1186/s13023-022-02560-x.

Niemann-Pick Disease: An Underdiagnosed Lysosomal Storage Disorder.尼曼-匹克病：一种诊断不足的溶酶体贮积症。

Case Rep Genet. 2019 Apr 21;2019:3108093. doi: 10.1155/2019/3108093. eCollection 2019.

Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD).酸性鞘磷脂酶缺乏症（ASMD）患者的疾病表现和疾病负担。

Orphanet J Rare Dis. 2017 Feb 23;12(1):41. doi: 10.1186/s13023-017-0572-x.

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