Yüklüyor......

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...

Ful tanımlama

Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:NDT Plus
Asıl Yazarlar: Al-Hamed, Mohamed, Sayer, John A., Al-Hassoun, Ibrahim, Aldahmesh, Mohamed A., Meyer, Brian
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Oxford University Press 2010
Konular:
Online Erişim: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
Etiketler: Etiketle
Etiket eklenmemiş, İlk siz ekleyin!