胱氨酸尿症AA型（B型）：双基因遗传，两个胱氨酸尿症基因中有三个突变。 - Suppr

Cystinuria AA (B): digenic inheritance with three mutations in two cystinuria genes.

作者信息

Gucev Zoran, Ristoska-Bojkovska Nadica, Popovska-Jankovic Katerina, Sukarova-Stefanovska Emilija, Tasic Velibor, Plaseska-Karanfilska Dijana, Efremov Georgi D

机构信息

Faculty of Medicine, University Children's Hospital, Skopje 1000, Republic of Macedonia.

出版信息

J Genet. 2011 Apr;90(1):157-9. doi: 10.1007/s12041-011-0045-2.

DOI:10.1007/s12041-011-0045-2

PMID:21677404

Abstract

摘要

相似文献

Cystinuria AA (B): digenic inheritance with three mutations in two cystinuria genes.胱氨酸尿症AA型（B型）：双基因遗传，两个胱氨酸尿症基因中有三个突变。

J Genet. 2011 Apr;90(1):157-9. doi: 10.1007/s12041-011-0045-2.

Novel human pathological mutations. Gene symbol: SLC3A1. Disease: cystinuria.新型人类病理突变。基因符号：SLC3A1。疾病：胱氨酸尿症。

Hum Genet. 2010 Apr;127(4):473.

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.

Novel human pathological mutations. Gene symbol: SLC3A1. Disease: Cystinuria.新型人类病理突变。基因符号：SLC3A1。疾病：胱氨酸尿症。

Hum Genet. 2009 Aug;126(2):335.

Digenic Inheritance in Cystinuria Mouse Model.胱氨酸尿症小鼠模型中的双基因遗传

PLoS One. 2015 Sep 11;10(9):e0137277. doi: 10.1371/journal.pone.0137277. eCollection 2015.

Novel human pathological mutations. Gene symbol: SLC3A1. Disease: cystinuria.新型人类病理突变。基因符号：SLC3A1。疾病：胱氨酸尿症。

Hum Genet. 2010 Apr;127(4):488-9.

The molecular basis of cystinuria.胱氨酸尿症的分子基础。

Nephron Exp Nephrol. 2004;98(2):e45-9. doi: 10.1159/000080255.

Analysis of a 1-year-old cystinuric patient with recurrent renal stones.对一名患有复发性肾结石的1岁胱氨酸尿症患者的分析。

Int J Urol. 2006 Oct;13(10):1347-9. doi: 10.1111/j.1442-2042.2006.01550.x.

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.

New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype.胱氨酸尿症的新见解：40种新突变、基因型-表型相关性以及导致部分表型的双基因遗传

J Med Genet. 2005 Jan;42(1):58-68. doi: 10.1136/jmg.2004.022244.

引用本文的文献

Predicting disease-causing variant combinations.预测致病变异组合。

Proc Natl Acad Sci U S A. 2019 Jun 11;116(24):11878-11887. doi: 10.1073/pnas.1815601116. Epub 2019 May 24.

Digenic Inheritance in Cystinuria Mouse Model.胱氨酸尿症小鼠模型中的双基因遗传

PLoS One. 2015 Sep 11;10(9):e0137277. doi: 10.1371/journal.pone.0137277. eCollection 2015.

Cystinuria-a urologist's perspective.胱氨酸尿症——泌尿科医生的视角。

Nat Rev Urol. 2014 May;11(5):270-7. doi: 10.1038/nrurol.2014.51. Epub 2014 Mar 25.

Molecular characterization of cystinuria in south-eastern European countries.东南欧国家胱氨酸尿症的分子特征。

Urolithiasis. 2013 Feb;41(1):21-30. doi: 10.1007/s00240-012-0531-x. Epub 2012 Dec 27.

本文引用的文献

Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients.通过多重连接依赖性探针扩增（MLPA）、点突变检测，并对 172 例胱氨酸尿症意大利患者队列中的 SLC3A1 和 SLC7A9 基因内突变频率进行调查，发现了大片段重排。

Mol Genet Metab. 2010 Jan;99(1):42-52. doi: 10.1016/j.ymgme.2009.09.001.

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。

Genet Test. 2008 Sep;12(3):351-5. doi: 10.1089/gte.2007.0113.

Cystinuria.胱氨酸尿症

Acta Paediatr Suppl. 2006 Jul;95(452):31-3. doi: 10.1111/j.1651-2227.2006.tb02412.x.

Molecular genetic analysis of SLC3A1 and SLC7A9 genes in Czech and Slovak cystinuric patients.捷克和斯洛伐克胱氨酸尿症患者中SLC3A1和SLC7A9基因的分子遗传学分析。

Ann Hum Genet. 2005 Sep;69(Pt 5):501-7. doi: 10.1111/j.1529-8817.2005.00185.x.

J Med Genet. 2005 Jan;42(1):58-68. doi: 10.1136/jmg.2004.022244.

Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification.SLC3A1和SLC7A9胱氨酸尿症患者及携带者的比较：一种新分类的必要性。

J Am Soc Nephrol. 2002 Oct;13(10):2547-53. doi: 10.1097/01.asn.0000029586.17680.e5.

Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes.儿童胱氨酸尿症：SLC3A1和SLC7A9基因的突变分布及频率

Kidney Int. 2002 Oct;62(4):1136-42. doi: 10.1111/j.1523-1755.2002.kid552.x.

Identification of 12 novel mutations in the SLC3A1 gene in Swedish cystinuria patients.瑞典胱氨酸尿症患者中SLC3A1基因12种新突变的鉴定。

Hum Mutat. 2001 Dec;18(6):516-25. doi: 10.1002/humu.1228.

Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria.SLC7A9基因突变的功能分析及非I型胱氨酸尿症的基因型-表型相关性

Hum Mol Genet. 2001 Feb 15;10(4):305-16. doi: 10.1093/hmg/10.4.305.

Molecular analysis of the cystinuria disease gene: identification of four new mutations, one large deletion, and one polymorphism.胱氨酸尿症疾病基因的分子分析：鉴定出四个新突变、一个大片段缺失和一个多态性。

Hum Genet. 1996 Oct;98(4):447-51. doi: 10.1007/s004390050237.

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Cystinuria AA (B): digenic inheritance with three mutations in two cystinuria genes.

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