患有[具体基因]新突变的小儿胱氨酸尿症患者 - Suppr

Pediatric Cystinuria Patient With Novel Mutation in .

作者信息

Watanabe Yoshitaka, Abe Yoshifusa, Sakamoto Shinichi, Morimoto Eiji, Taki Yuko, Hibino Satoshi, Fukagai Takashi, Watanabe Shuichiro

机构信息

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

Children Medical Center, Showa University Koto Toyosu Hospital, Tokyo, Japan.

出版信息

Glob Pediatr Health. 2019 Jul 18;6:2333794X19862441. doi: 10.1177/2333794X19862441. eCollection 2019.

DOI:10.1177/2333794X19862441

PMID:31367653

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6643165/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/74ba/6643165/e3bdad35a9cb/10.1177_2333794X19862441-fig1.jpg

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Pediatric Cystinuria Patient With Novel Mutation in .患有[具体基因]新突变的小儿胱氨酸尿症患者

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Twenty-four novel mutations identified in a cohort of 85 patients by direct sequencing of the SLC3A1 and SLC7A9 cystinuria genes.通过对85名患者的胱氨酸尿症基因SLC3A1和SLC7A9进行直接测序，鉴定出24种新突变。

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Glob Pediatr Health. 2014 Oct 7;1:2333794X14551275. doi: 10.1177/2333794X14551275. eCollection 2014.

A Novel Mutation in SLC3A1 Gene in Patients With Cystinuria.胱氨酸尿症患者中SLC3A1基因的一种新型突变。

Iran J Kidney Dis. 2016 Jan;10(1):44-7.

Clinical and genetic analysis of patients with cystinuria in the United Kingdom.英国胱氨酸尿症患者的临床与基因分析

Clin J Am Soc Nephrol. 2015 Jul 7;10(7):1235-45. doi: 10.2215/CJN.10981114. Epub 2015 May 11.

CKD and Its Risk Factors among Patients with Cystinuria.胱氨酸尿症患者中的慢性肾脏病及其危险因素

Clin J Am Soc Nephrol. 2015 May 7;10(5):842-51. doi: 10.2215/CJN.06680714. Epub 2015 Feb 25.

Cystinuria: an inborn cause of urolithiasis.胱氨酸尿症：一种先天性尿路结石病因。

Orphanet J Rare Dis. 2012 Apr 5;7:19. doi: 10.1186/1750-1172-7-19.

Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients.对 12 例胱氨酸尿症患者的临床、生化和分子特征进行分析。

Clin Genet. 2012 Jan;81(1):47-55. doi: 10.1111/j.1399-0004.2011.01638.x. Epub 2011 Feb 14.

Clinical and metabolic features of urolithiasis and microlithiasis in children.儿童尿路结石和微结石的临床及代谢特征

Pediatr Nephrol. 2009 Nov;24(11):2203-9. doi: 10.1007/s00467-009-1231-9. Epub 2009 Jul 15.

A novel missense mutation of SLC7A9 frequent in Japanese cystinuria cases affecting the C-terminus of the transporter.一种在日本胱氨酸尿症病例中常见的SLC7A9新型错义突变，影响转运蛋白的C末端。

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Pediatric Cystinuria Patient With Novel Mutation in .

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