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学科主题临床医学
A novel missense mutation in the SLC6A19 gene in a Chinese family with Hartnup disorder
Zheng, Yanhong; Zhou, Cuncai; Huang, Yongchu; Bu, Dingfang; Zhu, Xuejun; Jiang, Wei
刊名INTERNATIONAL JOURNAL OF DERMATOLOGY
2009-04-01
DOI10.1111/j.1365-4632.2009.03989.x
48期:4页:388-392
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Dermatology
资助者Basic Research Related to the Prevention and Treatment of Dermatologic Diseases project ; Basic Research Related to the Prevention and Treatment of Dermatologic Diseases project
研究领域[WOS]Dermatology
关键词[WOS]DISEASE
英文摘要

Hartnup disease is a rare autosomal-recessive abnormality of renal and gastrointestinal neutral amino acid transport associated with neurologic, psychiatric, and dermatologic symptoms. Mutations in the SLC6A19 gene have been proposed to be responsible for the underlying changes in this disorder.

To investigate a pedigree with Hartnup disorder and to search for the mutation in the SLC6A19 gene in this pedigree.

The encoding exons of the SLC6A19 gene were amplified and sequenced from genomic DNA samples. Amino acids were determined in urine samples from the proband and her family members.

The proband and her brother had a homozygous mutation of c.850G > A in the SLC6A19 gene, causing G284R in the transmembrane domain of the SLC6A19 transporter, inherited from their parents who were heterozygous carriers. Their urine samples showed increased values of eight neutral amino acids.

We found a novel homozygous mutation of G284R in the transmembrane domain of the SLC6A19 transporter in the proband, with typical dermatologic and neurologic manifestations and increased levels of urinary neutral amino acids.

语种英语
所属项目编号985-2-010-24
资助者Basic Research Related to the Prevention and Treatment of Dermatologic Diseases project ; Basic Research Related to the Prevention and Treatment of Dermatologic Diseases project
WOS记录号WOS:000264379400008
引用统计
被引频次:7[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/67405
专题北京大学第一临床医学院_皮肤性病科
作者单位1.He Ping Hosp, Chang Zhi Med Coll, Changzhi, Peoples R China
2.Peking Univ, Hosp 1 & 3, Dept Dermatol, Beijing 100871, Peoples R China
推荐引用方式
GB/T 7714
Zheng, Yanhong,Zhou, Cuncai,Huang, Yongchu,et al. A novel missense mutation in the SLC6A19 gene in a Chinese family with Hartnup disorder[J]. INTERNATIONAL JOURNAL OF DERMATOLOGY,2009,48(4):388-392.
APA Zheng, Yanhong,Zhou, Cuncai,Huang, Yongchu,Bu, Dingfang,Zhu, Xuejun,&Jiang, Wei.(2009).A novel missense mutation in the SLC6A19 gene in a Chinese family with Hartnup disorder.INTERNATIONAL JOURNAL OF DERMATOLOGY,48(4),388-392.
MLA Zheng, Yanhong,et al."A novel missense mutation in the SLC6A19 gene in a Chinese family with Hartnup disorder".INTERNATIONAL JOURNAL OF DERMATOLOGY 48.4(2009):388-392.
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