Alport syndrome: facts and opinions-Reference-Cited by-同舟云学术

Alport syndrome: facts and opinions

Published:2017-01-17 Issue: Volume:6 Page:50
ISSN:2046-1402
Container-title:F1000Research
language:en
Short-container-title:F1000Res

Author:

Kashtan Clifford

Abstract

In this commentary, I review recent advances in Alport syndrome genetics, diagnostics, and therapeutics. I also offer some opinions regarding strategies to optimize the early identification of affected individuals to promote early therapeutic intervention.

Publisher

F1000 Research Ltd

Subject

General Pharmacology, Toxicology and Pharmaceutics,General Immunology and Microbiology,General Biochemistry, Genetics and Molecular Biology,General Medicine

Link

https://f1000research.com/articles/6-50/v1/pdf

Reference68 articles.

1. Evidence of digenic inheritance in Alport syndrome.;M Mencarelli;J Med Genet.,2015

2. Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases.;C Fallerini;Clin Genet.,2014

3. Improving mutation screening in familial hematuric nephropathies through next generation sequencing.;V Morinière;J Am Soc Nephrol.,2014

4. Genotype-phenotype correlation in X-linked Alport syndrome.;M Bekheirnia;J Am Soc Nephrol.,2010

5. Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling.;O Gross;Nephrol Dial Transplant.,2002

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