希腊胱氨酸尿症患者中SLC3A1和SLC7A9突变概述。 - Suppr

Suppr

超能文献

An overview of SLC3A1 and SLC7A9 mutations in Greek cystinuria patients.

作者信息

Chatzikyriakidou Anthoula, Louizou Eirini, Dedousis George V Z, Bisceglia Luigi, Michelakakis Helen, Georgiou Ioannis

出版信息

Mol Genet Metab. 2008 Nov;95(3):192-3. doi: 10.1016/j.ymgme.2008.07.006. Epub 2008 Sep 7.

DOI:10.1016/j.ymgme.2008.07.006

PMID:18778962

Abstract

摘要

相似文献

An overview of SLC3A1 and SLC7A9 mutations in Greek cystinuria patients.

Mol Genet Metab. 2008 Nov;95(3):192-3. doi: 10.1016/j.ymgme.2008.07.006. Epub 2008 Sep 7.

Twenty-four novel mutations identified in a cohort of 85 patients by direct sequencing of the SLC3A1 and SLC7A9 cystinuria genes.

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

Identification of novel cystinuria mutations and polymorphisms in SLC3A1 and SLC7A9 genes: absence of SLC7A10 gene mutations in cystinuric patients.

Genet Test. 2005 Fall;9(3):175-84. doi: 10.1089/gte.2005.9.175.

Molecular genetic analysis of SLC3A1 and SLC7A9 genes in Czech and Slovak cystinuric patients.

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

A Novel Mutation in SLC3A1 Gene in Patients With Cystinuria.

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

Heterogeneous mutations in the SLC3A1 and SLC7A9 genes in Chinese patients with cystinuria.

Kidney Int. 2006 Jan;69(1):123-8. doi: 10.1038/sj.ki.5000003.

Mutation analysis of SLC3A1 and SLC7A9 genes in patients with cystinuria.

Urolithiasis. 2015 Oct;43(5):447-53. doi: 10.1007/s00240-015-0794-0. Epub 2015 Jun 30.

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.

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

Synergistic mutations in SLC3A1 and SLC7A9 leading to heterogeneous cystinuria phenotypes: pitfalls in the diagnostic workup.

Pediatr Nephrol. 2014 Jan;29(1):155-9. doi: 10.1007/s00467-013-2617-2. Epub 2013 Sep 19.

In silico analysis of SLC3A1 and SLC7A9 mutations in Iranian patients with Cystinuria.

Mol Biol Rep. 2018 Oct;45(5):1165-1173. doi: 10.1007/s11033-018-4269-6. Epub 2018 Aug 1.

引用本文的文献

Clinical Course and Mutational Analysis of Patients with Cystine Stone: A Single-Center Experience.

Biomedicines. 2023 Oct 11;11(10):2747. doi: 10.3390/biomedicines11102747.

Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants.

Mol Genet Genomic Med. 2017 May 16;5(4):373-389. doi: 10.1002/mgg3.294. eCollection 2017 Jul.

Delineation of cystinuria in Saudi Arabia: A case series.

BMC Nephrol. 2017 Feb 6;18(1):50. doi: 10.1186/s12882-017-0469-x.

Mutation analysis of SLC3A1 and SLC7A9 genes in patients with cystinuria.

Urolithiasis. 2015 Oct;43(5):447-53. doi: 10.1007/s00240-015-0794-0. Epub 2015 Jun 30.

Clinical and genetic analysis of patients with cystinuria in the United Kingdom.

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

Pathophysiology and treatment of cystinuria.

Nat Rev Nephrol. 2010 Jul;6(7):424-34. doi: 10.1038/nrneph.2010.69. Epub 2010 Jun 1.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验

An overview of SLC3A1 and SLC7A9 mutations in Greek cystinuria patients.

作者信息

Chatzikyriakidou Anthoula, Louizou Eirini, Dedousis George V Z, Bisceglia Luigi, Michelakakis Helen, Georgiou Ioannis

出版信息

Mol Genet Metab. 2008 Nov;95(3):192-3. doi: 10.1016/j.ymgme.2008.07.006. Epub 2008 Sep 7.

DOI:10.1016/j.ymgme.2008.07.006

PMID:18778962

Abstract

摘要

相似文献

An overview of SLC3A1 and SLC7A9 mutations in Greek cystinuria patients.

Mol Genet Metab. 2008 Nov;95(3):192-3. doi: 10.1016/j.ymgme.2008.07.006. Epub 2008 Sep 7.

Twenty-four novel mutations identified in a cohort of 85 patients by direct sequencing of the SLC3A1 and SLC7A9 cystinuria genes.

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

Identification of novel cystinuria mutations and polymorphisms in SLC3A1 and SLC7A9 genes: absence of SLC7A10 gene mutations in cystinuric patients.

Genet Test. 2005 Fall;9(3):175-84. doi: 10.1089/gte.2005.9.175.

Molecular genetic analysis of SLC3A1 and SLC7A9 genes in Czech and Slovak cystinuric patients.

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

A Novel Mutation in SLC3A1 Gene in Patients With Cystinuria.

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

Heterogeneous mutations in the SLC3A1 and SLC7A9 genes in Chinese patients with cystinuria.

Kidney Int. 2006 Jan;69(1):123-8. doi: 10.1038/sj.ki.5000003.

Mutation analysis of SLC3A1 and SLC7A9 genes in patients with cystinuria.

Urolithiasis. 2015 Oct;43(5):447-53. doi: 10.1007/s00240-015-0794-0. Epub 2015 Jun 30.

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.

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

Synergistic mutations in SLC3A1 and SLC7A9 leading to heterogeneous cystinuria phenotypes: pitfalls in the diagnostic workup.

Pediatr Nephrol. 2014 Jan;29(1):155-9. doi: 10.1007/s00467-013-2617-2. Epub 2013 Sep 19.

In silico analysis of SLC3A1 and SLC7A9 mutations in Iranian patients with Cystinuria.

Mol Biol Rep. 2018 Oct;45(5):1165-1173. doi: 10.1007/s11033-018-4269-6. Epub 2018 Aug 1.

引用本文的文献

Clinical Course and Mutational Analysis of Patients with Cystine Stone: A Single-Center Experience.

Biomedicines. 2023 Oct 11;11(10):2747. doi: 10.3390/biomedicines11102747.

Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants.

Mol Genet Genomic Med. 2017 May 16;5(4):373-389. doi: 10.1002/mgg3.294. eCollection 2017 Jul.

Delineation of cystinuria in Saudi Arabia: A case series.

BMC Nephrol. 2017 Feb 6;18(1):50. doi: 10.1186/s12882-017-0469-x.

Mutation analysis of SLC3A1 and SLC7A9 genes in patients with cystinuria.

Urolithiasis. 2015 Oct;43(5):447-53. doi: 10.1007/s00240-015-0794-0. Epub 2015 Jun 30.

Clinical and genetic analysis of patients with cystinuria in the United Kingdom.

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

Pathophysiology and treatment of cystinuria.

Nat Rev Nephrol. 2010 Jul;6(7):424-34. doi: 10.1038/nrneph.2010.69. Epub 2010 Jun 1.