Molecular basis of Sjögren-Larsson syndrome: frequency of the 1297-1298 del GA and 943C-->T mutation in 29 patients.

Suppr

超能文献

作者信息

Ijlst L, Oostheim W, van Werkhoven M, Willemsen M A, Wanders R J

机构信息

University of Amsterdam, Department of Clinical Chemistry, The Netherlands.

出版信息

J Inherit Metab Dis. 1999 May;22(3):319-21. doi: 10.1023/a:1005508205450.

DOI:10.1023/a:1005508205450

PMID:10384396

Abstract

摘要

相似文献

Molecular basis of Sjögren-Larsson syndrome: frequency of the 1297-1298 del GA and 943C-->T mutation in 29 patients.

J Inherit Metab Dis. 1999 May;22(3):319-21. doi: 10.1023/a:1005508205450.

A common deletion mutation in European patients with Sjögren-Larsson syndrome.

Biochem Mol Med. 1997 Dec;62(2):178-81. doi: 10.1006/bmme.1997.2640.

Sjögren-Larsson syndrome due to a novel mutation in the FALDH gene.因FALDH基因新突变导致的舍格伦-拉松综合征

Eur J Dermatol. 2011 May-Jun;21(3):412-3. doi: 10.1684/ejd.2011.1286.

A novel point mutation of the FALDH gene in a Japanese family with Sjögren-Larsson syndrome.

J Invest Dermatol. 2000 May;114(5):1065-6. doi: 10.1046/j.1523-1747.2000.00960-5.x.

Incomplete Sjögren-Larsson syndrome in two Japanese siblings?两名日本兄妹患有不完全性舍格伦-拉松综合征？

Dermatology. 1999;199(2):187-8. doi: 10.1159/000018237.

The molecular basis of Sjögren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene.舍格伦-拉松综合征的分子基础：脂肪醛脱氢酶基因的突变分析

Am J Hum Genet. 1999 Dec;65(6):1547-60. doi: 10.1086/302681.

A novel 4 bp deletion mutation in the FALDH gene segregating in a Turkish family with Sjögren-Larsson syndrome.

J Invest Dermatol. 1999 May;112(5):827-8. doi: 10.1046/j.1523-1747.1999.00574.x.

[A new mutation in the ALDH3A2 gene in a boy with Sjogren-Larsson syndrome].[一名患有舍格伦-拉松综合征男孩的ALDH3A2基因新突变]

Rev Neurol. 2018 Nov 16;67(10):415-416.

Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene.舍格伦-拉松综合征由脂肪醛脱氢酶基因突变引起。

Nat Genet. 1996 Jan;12(1):52-7. doi: 10.1038/ng0196-52.

[Sjögren-Larsson syndrome: Pediatric case report].[舍格伦-拉尔松综合征：儿科病例报告]

Arch Argent Pediatr. 2018 Dec 1;116(6):e773-e777. doi: 10.5546/aap.2018.e773.

本文引用的文献

Oligophrenia in combination with congenital ichthyosis and spastic disorders; a clinical and genetic study.智力发育迟缓合并先天性鱼鳞病和痉挛性疾病；一项临床与遗传学研究。

Acta Psychiatr Neurol Scand Suppl. 1957;113:1-112.

A common deletion mutation in European patients with Sjögren-Larsson syndrome.

Biochem Mol Med. 1997 Dec;62(2):178-81. doi: 10.1006/bmme.1997.2640.

Sjögren-Larsson syndrome is caused by a common mutation in northern European and Swedish patients.舍格伦-拉松综合征是由北欧和瑞典患者的一种常见突变引起的。

J Invest Dermatol. 1997 Jul;109(1):79-83. doi: 10.1111/1523-1747.ep12276622.

Human fatty aldehyde dehydrogenase gene (ALDH10): organization and tissue-dependent expression.

Genomics. 1997 Feb 15;40(1):80-5. doi: 10.1006/geno.1996.4547.

Genomic organization and expression of the human fatty aldehyde dehydrogenase gene (FALDH).人类脂肪醛脱氢酶基因（FALDH）的基因组结构与表达

Genomics. 1997 Jan 15;39(2):127-35. doi: 10.1006/geno.1996.4501.

Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene.舍格伦-拉松综合征由脂肪醛脱氢酶基因突变引起。

Nat Genet. 1996 Jan;12(1):52-7. doi: 10.1038/ng0196-52.

Microsomal aldehyde dehydrogenase is localized to the endoplasmic reticulum via its carboxyl-terminal 35 amino acids.微粒体醛脱氢酶通过其羧基末端的35个氨基酸定位于内质网。

J Cell Biol. 1994 Sep;126(6):1407-20. doi: 10.1083/jcb.126.6.1407.

Sjögren-Larsson syndrome. Impaired fatty alcohol oxidation in cultured fibroblasts due to deficient fatty alcohol:nicotinamide adenine dinucleotide oxidoreductase activity.舍格伦-拉尔松综合征。由于脂肪醇：烟酰胺腺嘌呤二核苷酸氧化还原酶活性不足，培养的成纤维细胞中脂肪醇氧化受损。

J Clin Invest. 1988 Mar;81(3):738-44. doi: 10.1172/JCI113379.

Sjögren-Larsson syndrome: inherited defect in the fatty alcohol cycle.舍格伦-拉松综合征：脂肪醇循环中的遗传性缺陷。

J Pediatr. 1989 Aug;115(2):228-34. doi: 10.1016/s0022-3476(89)80070-8.

Sjögren-Larsson syndrome. Deficient activity of the fatty aldehyde dehydrogenase component of fatty alcohol:NAD+ oxidoreductase in cultured fibroblasts.舍格伦-拉松综合征。培养的成纤维细胞中脂肪醇：NAD⁺氧化还原酶的脂肪醛脱氢酶成分活性不足。

J Clin Invest. 1991 Nov;88(5):1643-8. doi: 10.1172/JCI115478.

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