孤立性胱氨酸尿症（OMIM 238200）并非一个独立的病种，而是由胱氨酸尿症基因SLC7A9的突变所引起。 - Suppr

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超能文献

Isolated cystinuria (OMIM 238200) is not a separate entity but is caused by a mutation in the cystinuria gene SLC7A9.

作者信息

Eggermann T, Elbracht M, Haverkamp F, Schmidt C, Zerres K

出版信息

Clin Genet. 2007 Jun;71(6):597-8. doi: 10.1111/j.1399-0004.2007.00797.x.

DOI:10.1111/j.1399-0004.2007.00797.x

PMID:17539912

Abstract

摘要

相似文献

Isolated cystinuria (OMIM 238200) is not a separate entity but is caused by a mutation in the cystinuria gene SLC7A9.

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Isolated cystinuria (OMIM 238200) is not a separate entity but is caused by a mutation in the cystinuria gene SLC7A9.

作者信息

Eggermann T, Elbracht M, Haverkamp F, Schmidt C, Zerres K

出版信息

Clin Genet. 2007 Jun;71(6):597-8. doi: 10.1111/j.1399-0004.2007.00797.x.

DOI:10.1111/j.1399-0004.2007.00797.x

PMID:17539912

Abstract

摘要

相似文献

Isolated cystinuria (OMIM 238200) is not a separate entity but is caused by a mutation in the cystinuria gene SLC7A9.

Clin Genet. 2007 Jun;71(6):597-8. doi: 10.1111/j.1399-0004.2007.00797.x.

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.

Cystinuria in a patient with a novel mutation in SLC7A9 gene.

Iran J Kidney Dis. 2015 Jan;9(1):63-6.

Functional analysis of a new splice site mutation, c.605-3C>A, in the cystinuria gene SLC7A9 leading to exon skipping.

Mol Genet Metab. 2005 Feb;84(2):172-5. doi: 10.1016/j.ymgme.2004.08.018.

A combined approach to the molecular analysis of cystinuria: from urinalysis to sequencing via genotyping.

Isr Med Assoc J. 2007 Jul;9(7):513-6.

Gene symbol: SLC7A9. Disease: cystinuria, untyped.

Hum Genet. 2005 Feb;116(3):238.

[From gene to disease; SLC3A1, SLC7A9 and cystinuria].

Ned Tijdschr Geneeskd. 2003 Feb 8;147(6):245-7.

Gene symbol: SLC7A9. Disease: cystinuria, type non-I.

Hum Genet. 2005 Feb;116(3):238.

Gene symbol: SLC7A9. Disease: cystinuria, type non-I.

Hum Genet. 2005 Feb;116(3):239.

Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients.

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

引用本文的文献

Diversity of Phenotype and Genetic Etiology of 23 Cystinuria Saudi Patients: A Retrospective Study.

Front Pediatr. 2020 Nov 11;8:569389. doi: 10.3389/fped.2020.569389. eCollection 2020.

Heteromeric Solute Carriers: Function, Structure, Pathology and Pharmacology.

Adv Exp Med Biol. 2021;21:13-127. doi: 10.1007/5584_2020_584.

Cystinuria: an inborn cause of urolithiasis.

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

Clinical utility gene card for: Cystinuria.

Eur J Hum Genet. 2012 Feb;20(2). doi: 10.1038/ejhg.2011.163. Epub 2011 Aug 24.

Pathophysiology and treatment of cystinuria.

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