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Pseudodominant inheritance of nephronophthisis caused by a homozygous NPHP1 deletion

Nephronophthisis (NPHP) is an autosomal recessive kidney disease characterized by tubular basement membrane disruption, interstitial infiltration, and tubular cysts. NPHP leads to end-stage renal failure in the first two decades of life and is the most frequent genetic cause of chronic renal failure...

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Hlavní autoři: Hoefele, Julia, Nayir, Ahmet, Imm, Anita, Allen, Susan J., Otto, Edgar A., Hildebrandt, Friedhelm
Médium: Artigo
Jazyk:Inglês
Vydáno: 2011
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3342573/
https://ncbi.nlm.nih.gov/pubmed/21258817
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00467-011-1761-9
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