Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies

Nephronophthisis (NPHP), an autosomal recessive cystic kidney disease, is the most frequent genetic cause for end-stage renal failure in the first 3 decades of life. Mutations in 13 genes (NPHP1-NPHP11, AHI1, and CC2D2A) cause NPHP with ubiquitous expression of the corresponding proteins consistent...

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Detaylı Bibliyografya
Asıl Yazarlar: Chaki, Moumita, Hoefele, Julia, Allen, Susan J., Ramaswami, Gokul, Janssen, Sabine, Bergmann, Carsten, Heckenlively, John R., Otto, Edgar A., Hildebrandt, Friedhelm
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2011
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Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4037742/
https://ncbi.nlm.nih.gov/pubmed/21866095
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ki.2011.284
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