Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome

Background. Congenital nephrotic syndrome (CNS) is de- fined as nephrotic syndrome that manifests at birth or within the first 3 months of life. Most patients develop end-stage renal disease (ESRD) within 2 to 3 years of life. CNS of the Finnish-type (CNF) features a rather specific renal histology...

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Hlavní autoři: Heeringa, Saskia F., Vlangos, Christopher N., Chernin, Gil, Hinkes, Bernward, Gbadegesin, Rasheed, Liu, Jinhong, Hoskins, Bethan E., Ozaltin, Fatih, Hildebrandt, Friedhelm
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2008
Témata:
Clinical Nephrology
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2720813/
https://ncbi.nlm.nih.gov/pubmed/18503012
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/ndt/gfn271
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