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A novel mutation in NPHS2 causing nephrotic syndrome in a Saudi Arabian family
We report a consanguineous family from Saudi Arabia with three affected children presenting with infantile nephrotic syndrome. In order to provide a molecular diagnosis, a genome-wide SNP analysis of the affected patients was performed. We identified a region of homozygosity on chromosome 1, contain...
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| Pubblicato in: | NDT Plus |
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| Autori principali: | , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Oxford University Press
2010
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4421432/ https://ncbi.nlm.nih.gov/pubmed/25949463 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/ndtplus/sfq149 |
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