Molecular analysis of the cystinuria disease gene: identification of four new mutations, one large deletion, and one polymorphism-Reference-Cited by-同舟云学术

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Molecular analysis of the cystinuria disease gene: identification of four new mutations, one large deletion, and one polymorphism

Published:1996-08-22 Issue:4 Volume:98 Page:447-451
ISSN:0340-6717
Container-title:Human Genetics
language:
Short-container-title:Human Genetics

Author:

Bisceglia Luigi,Calonge Maria Julia,Strologo Luca Dello,Rizzoni Gianfranco,de Sanctis Luisa,Gallucci Michele,Beccia Ercole,Testar Xavier,Zorzano Antonio,Estivill Xavier,Zelante Leopoldo,Palacin Manuel,Gasparini P.,Nunes Virginia

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s004390050237.pdf

Cited by 45 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Introducing Exome Sequencing as Part of the Diagnostic Algorithm for Pediatric Nephrology Patients in Bulgaria: A Single-Center Experience;Nephron;2024-03-28

2. Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis;Clinical Journal of the American Society of Nephrology;2016-01-19

3. Molecular and Clinical Investigation of Cystinuria in the Greek-Cypriot Population;Genetic Testing and Molecular Biomarkers;2015-11

4. Mutation analysis of SLC3A1 and SLC7A9 genes in patients with cystinuria;Urolithiasis;2015-06-30

5. Molecular characterization of cystinuria in south-eastern European countries;Urolithiasis;2012-12-27

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