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学科主题: 临床医学
题名:
A novel missense mutation in the SLC6A19 gene in a Chinese family with Hartnup disorder
作者: Zheng, Yanhong; Zhou, Cuncai; Huang, Yongchu; Bu, Dingfang; Zhu, Xuejun; Jiang, Wei
刊名: INTERNATIONAL JOURNAL OF DERMATOLOGY
发表日期: 2009-04-01
DOI: 10.1111/j.1365-4632.2009.03989.x
卷: 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
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
项目资助者: Basic Research Related to the Prevention and Treatment of Dermatologic Diseases project
WOS记录号: WOS:000264379400008
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/67405
Appears in Collections:北京大学第一临床医学院_皮肤性病科_期刊论文

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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

Recommended Citation:
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.
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